id sid tid token lemma pos work_gtjtuksqxvhelgtzrkw2lkyr2a 1 1 Update update NN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 2 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 1 4 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 5 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 6 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 7 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 1 8 Update Update NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 9 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 10 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 1 11 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 12 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 13 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 14 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 1 15 Katarina Katarina NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 16 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 1 18 PhD,*,† PhD,*,† NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 19 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 1 20 Carina Carina NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 21 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 22 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 1 23 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 24 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 1 25 MD MD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 26 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 1 27 PhD† PhD† VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 1 28 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 1 29 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 1 30 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 1 31 form form VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 32 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 1 33 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 1 34 clinically clinically RB work_gtjtuksqxvhelgtzrkw2lkyr2a 1 35 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 1 36 genetically genetically RB work_gtjtuksqxvhelgtzrkw2lkyr2a 1 37 heterogeneous heterogeneous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 1 38 group group NN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 39 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 40 disor- disor- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 41 From from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 42 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 1 43 * * NFP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 44 Molecular molecular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 1 45 ulty ulty NN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 46 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 1 47 Biological Biological NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 48 Helsinki Helsinki NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 49 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 1 50 Finland Finland NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 1 51 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 2 1 yThe yThe NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 2 2 Folkh€alsan Folkh€alsan NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 2 3 Inst Inst NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 2 4 Department Department NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 2 5 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 2 6 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 2 7 Helsinki Helsinki NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 2 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 2 9 Finland Finland NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 2 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 3 1 Supported support VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 3 2 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 3 3 part part NN work_gtjtuksqxvhelgtzrkw2lkyr2a 3 4 b b NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 5 Française française CD work_gtjtuksqxvhelgtzrkw2lkyr2a 3 6 contre contre NN work_gtjtuksqxvhelgtzrkw2lkyr2a 3 7 L€akares€allskapet L€akares€allskapet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 3 9 0094 0094 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 3 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 3 11 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 3 12 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 3 13 Med Med NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 14 Address Address NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 15 reprint reprint NN work_gtjtuksqxvhelgtzrkw2lkyr2a 3 16 reque reque NN work_gtjtuksqxvhelgtzrkw2lkyr2a 3 17 Environmental Environmental NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 18 Sci Sci NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 19 9 9 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 3 20 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 3 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 3 22 FI-00014 FI-00014 NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 3 23 Helsi Helsi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 24 12 12 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 3 25 https://doi.org/ https://doi.org/ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 3 26 1071 1071 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 3 27 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 3 28 9091/11 9091/11 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 3 29 ders der NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 3 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 4 1 Currently currently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 4 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 4 3 in in RP work_gtjtuksqxvhelgtzrkw2lkyr2a 4 4 at at RB work_gtjtuksqxvhelgtzrkw2lkyr2a 4 5 least least RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 4 6 27 27 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 4 7 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 4 8 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 4 9 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 4 10 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 11 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 12 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 4 13 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 4 14 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 4 15 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 4 16 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 4 18 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 4 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 4 20 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 21 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 4 22 expected expect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 23 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 4 24 increase increase VB work_gtjtuksqxvhelgtzrkw2lkyr2a 4 25 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 26 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 27 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 4 28 accelerated accelerated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 4 29 use use NN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 30 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 31 next next JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 4 32 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 4 33 generation generation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 34 sequencing sequencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 4 35 methods method NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 4 36 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 5 1 There there EX work_gtjtuksqxvhelgtzrkw2lkyr2a 5 2 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 5 3 substantial substantial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 5 4 overlap overlap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 5 5 between between IN work_gtjtuksqxvhelgtzrkw2lkyr2a 5 6 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 5 7 causative causative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 5 8 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 5 9 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 5 10 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 5 11 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 5 12 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 5 13 histopathologic histopathologic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 5 14 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 5 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 5 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 5 17 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 5 18 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 5 19 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 6 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 6 2 mode mode NN work_gtjtuksqxvhelgtzrkw2lkyr2a 6 3 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 6 4 inheritance inheritance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 6 5 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 6 6 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 6 7 auto- auto- FW work_gtjtuksqxvhelgtzrkw2lkyr2a 6 8 somal somal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 6 9 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 6 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 6 11 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 6 12 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 6 13 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 6 14 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 6 15 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 6 16 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 6 17 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 7 1 Both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 7 2 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 7 3 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 7 4 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 7 5 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 7 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 7 8 same same JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 7 9 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 10 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 7 11 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 7 12 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 7 13 similar similar JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 7 14 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 15 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 7 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 7 18 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 7 19 same same JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 7 20 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 7 21 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 22 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 7 23 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 7 24 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 7 25 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 26 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 27 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 7 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 7 29 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 7 30 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 7 31 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 8 1 Clear Clear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 8 2 genotype genotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 8 3 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 8 4 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 8 5 correlations correlation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 8 6 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 8 7 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 8 8 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 8 9 far far RB work_gtjtuksqxvhelgtzrkw2lkyr2a 8 10 between between IN work_gtjtuksqxvhelgtzrkw2lkyr2a 8 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 9 1 Semin Semin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 9 2 Pediatr Pediatr NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 9 3 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 9 4 29:12 29:12 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 9 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 9 6 22 22 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 9 7 © © CD work_gtjtuksqxvhelgtzrkw2lkyr2a 9 8 2019 2019 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 9 9 Elsevier Elsevier NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 9 10 Inc. Inc. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 9 11 All all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 9 12 rights right NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 9 13 reserved reserve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 9 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 10 1 Introduction introduction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 2 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 10 3 application application NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 4 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 5 next next JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 10 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 10 7 generation generation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 8 sequencing sequencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 9 methods method NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 10 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 10 11 such such JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 10 12 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 13 whole whole RB work_gtjtuksqxvhelgtzrkw2lkyr2a 10 14 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 10 15 exome exome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 16 sequencing sequencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 10 18 targeted target VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 10 19 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 20 panels panel NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 10 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 10 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 10 23 whole whole RB work_gtjtuksqxvhelgtzrkw2lkyr2a 10 24 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 10 25 genome genome RB work_gtjtuksqxvhelgtzrkw2lkyr2a 10 26 sequencing sequencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 27 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 10 28 resulted result VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 30 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 10 31 accelerated accelerated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 10 32 discovery discovery NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 33 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 34 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 10 35 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 36 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 10 37 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 10 38 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 39 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 10 40 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 10 41 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 10 42 underlying underlie VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 10 43 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 10 44 various various JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 10 45 types type NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 10 46 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 10 47 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 10 48 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 10 49 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 11 1 Further- Further- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 11 2 more more RBR work_gtjtuksqxvhelgtzrkw2lkyr2a 11 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 11 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 11 5 use use NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 6 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 7 custom custom JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 8 high high JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 9 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 11 10 density density NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 11 oligonucleotide oligonucleotide NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 12 arrays array NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 11 13 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 14 comparative comparative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 15 genomic genomic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 16 hybridization hybridization NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 17 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 18 enabled enable VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 11 20 discovery discovery NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 22 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 23 copy copy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 24 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 25 variations variation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 11 26 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 11 27 CNVs CNVs NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 11 28 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 11 29 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 11 30 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 11 31 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 32 example example NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 33 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 11 34 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 11 35 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 11 36 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 11 37 centronuclear centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 11 38 myopathy.1 myopathy.1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 11 39 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 11 40 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 11 41 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 11 42 inheritance inheritance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 43 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 44 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 45 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 11 46 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 11 47 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 11 48 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 49 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 50 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 11 51 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 52 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 11 53 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 11 54 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 55 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 11 56 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 11 57 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 12 1 De De NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 2 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 3 domi- domi- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 4 nant nant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 5 disease disease NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 12 7 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 12 8 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 12 9 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 10 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 11 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 12 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 12 13 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 12 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 15 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 16 example example NN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 18 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 19 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 12 20 TPM2.4,5 TPM2.4,5 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 21 Both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 12 22 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 23 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 12 24 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 25 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 12 26 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 27 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 28 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 30 several several JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 31 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 12 32 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 33 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 34 example example NN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 35 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 36 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 37 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 38 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 39 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 40 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 41 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 42 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 43 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 44 MYH2 MYH2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 45 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 46 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 12 47 TTN.4 TTN.4 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 48 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 49 8 8 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 12 50 Interest- interest- RB work_gtjtuksqxvhelgtzrkw2lkyr2a 12 51 ingly ingly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 12 52 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 53 epigenetic epigenetic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 54 silencing silencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 55 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 56 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 12 57 wild wild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 58 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 12 59 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 60 allele allele NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 12 61 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 12 62 result result VB work_gtjtuksqxvhelgtzrkw2lkyr2a 12 63 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 64 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 12 65 Integrative Integrative NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 66 Biosciences Biosciences NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 67 Research Research NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 68 Programme Programme NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 69 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 70 Fac- Fac- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 71 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 12 72 Environmental Environmental NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 73 Sciences Sciences NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 12 74 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 75 University University NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 76 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 77 Helsinki Helsinki NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 78 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 79 itute itute NN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 80 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 81 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 82 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 83 Folkh€alsan Folkh€alsan NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 84 Research Research NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 85 Center Center NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 86 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 87 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 12 88 edical edical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 12 89 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 12 90 Clinical Clinical NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 91 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 92 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 93 University University NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 94 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 95 Helsinki Helsinki NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 96 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 97 y y NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 98 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 12 99 Sigrid Sigrid NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 100 Jus Jus NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 101 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 102 elius elius NN work_gtjtuksqxvhelgtzrkw2lkyr2a 12 103 Foundation Foundation NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 104 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 12 105 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 12 106 Association Association NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 107 les les FW work_gtjtuksqxvhelgtzrkw2lkyr2a 12 108 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 12 109 grant grant VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 12 110 no no UH work_gtjtuksqxvhelgtzrkw2lkyr2a 12 111 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 13 1 18761 18761 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 13 2 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 13 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 13 4 Finska Finska NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 13 5 Muscular Muscular NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 13 6 Dystrophy Dystrophy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 13 7 UK UK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 13 8 grant grant VB work_gtjtuksqxvhelgtzrkw2lkyr2a 13 9 no no NN work_gtjtuksqxvhelgtzrkw2lkyr2a 13 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 14 1 16NEM 16nem LS work_gtjtuksqxvhelgtzrkw2lkyr2a 14 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 14 3 PG36- PG36- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 14 4 icinska icinska NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 14 5 underst€odsf€oreningen underst€odsf€oreningen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 14 6 Liv Liv NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 14 7 och och NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 14 8 H€alsa h€alsa ADD work_gtjtuksqxvhelgtzrkw2lkyr2a 14 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 15 1 sts st NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 15 2 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 15 3 Katarina Katarina NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 4 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 15 6 PhD phd NN work_gtjtuksqxvhelgtzrkw2lkyr2a 15 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 15 8 Faculty Faculty NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 9 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 15 10 Biological Biological NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 11 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 15 12 ences ence NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 15 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 15 14 University University NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 15 16 Helsinki Helsinki NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 15 18 P.O.Box P.O.Box NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 19 56 56 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 15 20 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 15 21 Viikinkaari Viikinkaari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 22 nki nki NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 23 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 15 24 Finland Finland NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 15 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 16 1 E e NN work_gtjtuksqxvhelgtzrkw2lkyr2a 16 2 - - NN work_gtjtuksqxvhelgtzrkw2lkyr2a 16 3 mail mail NN work_gtjtuksqxvhelgtzrkw2lkyr2a 16 4 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 16 5 Katarina.Pelin@helsinki.fi Katarina.Pelin@helsinki.fi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 16 6 10.1016 10.1016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 16 7 / / SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 16 8 j.spen.2019.01.005 j.spen.2019.01.005 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 16 9 / / SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 16 10 © © NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 16 11 2019 2019 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 16 12 Elsevier Elsevier NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 16 13 Inc. Inc. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 16 14 All all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 16 15 rights right NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 16 16 reserved reserve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 16 17 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 17 1 monoallelic monoallelic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 17 2 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 17 3 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 17 4 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 17 5 mutant mutant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 17 6 allele allele NN work_gtjtuksqxvhelgtzrkw2lkyr2a 17 7 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 17 8 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 17 9 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 17 10 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 17 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 18 1 This this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 2 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 3 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 4 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 5 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 6 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 7 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 18 8 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 9 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 10 thies.9 thies.9 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 11 Furthermore furthermore RB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 18 13 it -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 14 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 15 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 16 suggested suggest VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 17 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 19 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 20 pathophysiological pathophysiological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 21 pathway pathway NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 22 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 23 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 24 epigenetic epigenetic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 25 changes change NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 26 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 27 activated activate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 29 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 30 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 31 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 32 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 33 myopathies.10 myopathies.10 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 34 Mutations Mutations NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 35 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 36 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 37 same same JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 38 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 39 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 18 40 result result VB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 41 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 42 more more JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 18 43 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 44 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 18 45 clini- clini- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 46 cal cal NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 47 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 48 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 18 49 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 18 50 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 51 same same JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 52 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 53 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 54 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 18 55 result result VB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 56 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 57 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 58 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 59 several several JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 60 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 61 genes.11 genes.11 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 62 There there EX work_gtjtuksqxvhelgtzrkw2lkyr2a 18 63 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 64 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 65 sub- sub- DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 66 stantial stantial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 67 variation variation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 68 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 69 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 70 severity severity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 71 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 72 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 73 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 74 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 75 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 18 76 even even RB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 77 within within IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 78 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 18 79 genetic genetic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 80 entity entity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 81 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 18 82 seldom seldom RB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 83 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 84 any any DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 85 discernible discernible JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 86 genotype genotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 87 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 18 88 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 89 correlations.12 correlations.12 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 90 Nemaline Nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 91 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 92 Including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 18 93 Cap Cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 94 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 95 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 18 96 Fiber Fiber NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 97 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 18 98 Type Type NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 99 Disproportion Disproportion NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 100 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 101 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 102 spectrum spectrum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 103 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 104 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 105 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 106 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 18 107 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 108 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 18 109 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 110 wide wide JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 111 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 18 112 ranging range VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 18 113 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 114 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 115 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 116 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 117 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 18 118 sometimes sometimes RB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 119 already already RB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 120 detect- detect- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 121 able able JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 122 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 123 utero utero NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 124 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 18 125 through through IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 126 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 18 127 typical typical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 18 128 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 129 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 130 milder milder NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 131 childhood- childhood- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 132 onset onset NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 18 133 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 18 134 even even RB work_gtjtuksqxvhelgtzrkw2lkyr2a 18 135 adult adult NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 136 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 18 137 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 18 138 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 18 139 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 19 1 Nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 19 2 rods rod NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 19 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 19 4 derived derive VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 19 5 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 19 6 sarcomeric sarcomeric JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 19 7 Z z NN work_gtjtuksqxvhelgtzrkw2lkyr2a 19 8 discs disc NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 19 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 19 10 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 19 11 often often RB work_gtjtuksqxvhelgtzrkw2lkyr2a 19 12 type type VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 19 13 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 19 14 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 19 15 predominance predominance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 19 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 19 17 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 19 18 characteristic characteristic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 19 19 pathological pathological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 19 20 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 19 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 19 22 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 19 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 20 1 Cap Cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 20 2 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 20 3 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 20 4 pathologically pathologically RB work_gtjtuksqxvhelgtzrkw2lkyr2a 20 5 characterised characterise VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 6 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 7 cap cap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 20 9 like like JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 20 10 structures structure NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 20 11 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 12 disorgan- disorgan- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 20 13 ised ised JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 20 14 myofibrils myofibril NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 20 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 20 16 thickened thicken VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 20 17 Z z NN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 18 discs disc NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 20 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 20 20 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 20 21 usually usually RB work_gtjtuksqxvhelgtzrkw2lkyr2a 20 22 no no DT work_gtjtuksqxvhelgtzrkw2lkyr2a 20 23 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 20 24 rods.11 rods.11 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 20 25 Following follow VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 20 26 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 20 27 description description NN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 28 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 29 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 20 30 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 20 31 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 20 32 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 33 variable variable JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 20 34 presence presence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 35 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 36 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 20 37 rods rod NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 20 38 and/or and/or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 20 39 caps,13,14 caps,13,14 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 20 40 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 20 41 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 20 42 cap cap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 43 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 20 44 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 20 45 considered consider VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 20 46 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 20 47 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 20 48 overlapping overlap VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 20 49 entities entity NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 20 50 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 21 1 Fiber- fiber- CD work_gtjtuksqxvhelgtzrkw2lkyr2a 21 2 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 3 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 4 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 21 5 FTD FTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 6 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 21 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 21 8 that that RB work_gtjtuksqxvhelgtzrkw2lkyr2a 21 9 is is RB work_gtjtuksqxvhelgtzrkw2lkyr2a 21 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 21 11 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 12 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 21 13 hypotrophy hypotrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 21 16 http://crossmark.crossref.org/dialog/?doi=10.1016/j.spen.2019.01.005&domain=pdf http://crossmark.crossref.org/dialog/?doi=10.1016/j.spen.2019.01.005&domain=pdf NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 17 mailto:Katarina.Pelin@helsinki.fi mailto:Katarina.Pelin@helsinki.fi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 18 https://dx.doi.org/10.1016/j.spen.2019.01.005 https://dx.doi.org/10.1016/j.spen.2019.01.005 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 19 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 20 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 21 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 22 13 13 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 21 23 presence presence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 24 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 25 larger large JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 21 26 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 27 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 21 28 fibers fiber NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 21 29 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 21 30 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 21 31 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 32 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 21 33 absence absence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 34 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 35 specific specific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 21 36 pathological pathological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 21 37 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 21 38 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 21 39 may may MD work_gtjtuksqxvhelgtzrkw2lkyr2a 21 40 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 21 41 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 42 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 43 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 21 44 same same JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 21 45 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 21 46 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 47 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 48 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 21 49 cap cap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 50 myopathy.11 myopathy.11 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 51 FTD FTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 52 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 21 53 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 54 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 21 55 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 56 predominance predominance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 57 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 21 58 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 21 59 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 21 60 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 61 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 21 62 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 21 63 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 21 64 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 21 65 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 21 66 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 21 67 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 68 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 69 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 21 70 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 21 71 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 21 72 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 21 73 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 22 1 Eleven Eleven NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 22 2 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 22 3 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 22 4 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 22 5 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 22 6 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 22 7 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 22 8 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 22 9 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 22 10 date15 date15 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 22 11 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 22 12 25 25 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 22 13 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 22 14 Fig Fig NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 22 15 . . NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 22 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 22 17 Table table NN work_gtjtuksqxvhelgtzrkw2lkyr2a 22 18 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 22 19 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 23 1 Seven seven CD work_gtjtuksqxvhelgtzrkw2lkyr2a 23 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 3 these these DT work_gtjtuksqxvhelgtzrkw2lkyr2a 23 4 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 23 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 6 that that RB work_gtjtuksqxvhelgtzrkw2lkyr2a 23 7 is is RB work_gtjtuksqxvhelgtzrkw2lkyr2a 23 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 9 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 11 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 13 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 15 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 17 TNNT1 TNNT1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 19 LMOD3 lmod3 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 20 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 23 22 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 23 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 24 encode encode VB work_gtjtuksqxvhelgtzrkw2lkyr2a 23 25 structural structural JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 26 proteins protein NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 23 27 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 28 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 23 29 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 30 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 31 sarcomere sarcomere RB work_gtjtuksqxvhelgtzrkw2lkyr2a 23 32 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 33 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 34 regulates regulate VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 35 actin actin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 36 filament filament NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 37 dynamics dynamic NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 23 38 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 23 39 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 40 essential essential JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 41 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 42 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 43 maintenance maintenance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 44 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 45 whereas whereas IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 46 three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 23 47 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 48 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 23 49 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 23 50 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 51 that that RB work_gtjtuksqxvhelgtzrkw2lkyr2a 23 52 is is RB work_gtjtuksqxvhelgtzrkw2lkyr2a 23 53 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 54 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 55 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 56 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 57 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 58 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 23 59 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 60 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 23 61 encode encode NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 23 62 proteins protein NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 23 63 involved involve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 64 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 65 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 23 66 maintenance maintenance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 67 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 68 sarcomeric sarcomeric JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 69 integrity integrity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 70 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 71 regulating regulate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 23 72 turnover turnover NN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 73 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 23 74 sarcomeric sarcomeric JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 23 75 proteins protein NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 23 76 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 24 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 24 2 Nebulin Nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 3 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 4 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 24 5 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 6 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 24 7 Disease Disease NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 24 9 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 24 10 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 24 11 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 12 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 24 13 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 14 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 15 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 24 16 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 17 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 24 18 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 24 20 most most RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 24 21 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 24 22 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 24 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 24 25 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 24 26 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 24 28 accounting account VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 24 29 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 30 approximately approximately RB work_gtjtuksqxvhelgtzrkw2lkyr2a 24 31 50 50 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 24 32 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 33 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 34 all all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 24 35 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 24 36 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 24 37 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 24 38 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 24 39 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 24 40 most most RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 24 41 com- com- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 24 42 mon mon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 43 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 44 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 45 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 24 46 typical typical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 24 47 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 24 48 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 25 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 25 2 majority majority NN work_gtjtuksqxvhelgtzrkw2lkyr2a 25 3 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 25 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 25 5 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 25 6 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 25 7 compound compound NN work_gtjtuksqxvhelgtzrkw2lkyr2a 25 8 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 25 9 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 25 10 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 25 11 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 25 12 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 25 13 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 25 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 26 1 Point point NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 3 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 26 4 aberrant aberrant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 5 splicing splicing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 7 small small JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 8 indels indel NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 9 caus- caus- VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 10 ing ing NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 11 frameshifts frameshift NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 13 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 26 14 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 15 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 16 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 17 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 26 18 most most RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 19 com- com- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 20 mon mon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 21 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 22 types type NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 24 NEB.12 NEB.12 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 25 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 26 custom custom JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 27 high high JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 28 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 26 29 density density NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 30 oligonucleotide oligonucleotide JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 31 array array NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 32 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 33 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 26 34 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 35 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 26 36 CGH CGH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 37 array array NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 38 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 39 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 40 revealed reveal VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 41 sev- sev- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 42 eral eral JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 43 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 44 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 45 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 46 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 26 47 143 143 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 48 kb kb NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 49 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 50 CNVs CNVs NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 51 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 52 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 53 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 54 including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 26 55 recurrent recurrent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 56 CNVs cnv NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 57 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 58 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 26 59 triplicate triplicate NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 60 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 61 spanning span VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 26 62 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 63 82 82 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 64 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 26 65 105.1,26 105.1,26 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 66 Eight eight CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 67 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 68 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 69 repeated repeat VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 70 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 71 times time NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 72 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 73 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 26 74 32-kb 32-kb NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 75 triplicate triplicate NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 76 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 26 77 TRI tri NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 78 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 26 79 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 80 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 81 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 82 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 26 83 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 26 84 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 26 85 normal normal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 86 copy copy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 87 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 88 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 26 89 6 6 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 90 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 26 91 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 26 92 copies copy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 26 93 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 26 94 each each DT work_gtjtuksqxvhelgtzrkw2lkyr2a 26 95 allele allele NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 26 96 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 26 97 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 27 1 Deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 2 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 27 3 duplication duplication NN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 4 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 5 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 27 6 TRI TRI NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 27 7 copy copy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 8 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 27 9 non- non- RB work_gtjtuksqxvhelgtzrkw2lkyr2a 27 10 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 27 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 27 12 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 27 13 gains gain NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 27 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 15 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 27 16 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 27 17 more more JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 27 18 TRI TRI NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 27 19 copies copy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 27 20 segregate segregate VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 27 21 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 22 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 27 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 24 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 27 25 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 26 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 27 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 27 28 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 27 29 studied study VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 27 30 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 27 31 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 27 32 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 27 33 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 27 34 thus thus RB work_gtjtuksqxvhelgtzrkw2lkyr2a 27 35 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 27 36 interpreted interpret VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 27 37 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 27 38 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 27 39 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 27 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 28 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 28 2 CNVs CNVs NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 28 3 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 28 5 TRI TRI NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 6 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 7 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 8 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 9 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 28 10 currently currently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 28 11 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 28 12 detected detect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 13 only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 28 14 using use VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 28 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 28 16 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 17 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 28 18 CGH CGH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 28 20 array.26 array.26 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 21 We -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 22 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 23 estimated estimate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 24 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 25 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 28 26 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 28 27 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 28 28 CNV CNV NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 30 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 31 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 28 32 present present JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 28 33 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 34 10%-15 10%-15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 28 35 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 36 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 28 37 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 28 38 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 28 39 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 29 1 Figure figure NN work_gtjtuksqxvhelgtzrkw2lkyr2a 29 2 Congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 29 3 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 29 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 29 5 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 29 6 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 29 7 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 30 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 30 2 diagram diagram NN work_gtjtuksqxvhelgtzrkw2lkyr2a 30 3 show show NN work_gtjtuksqxvhelgtzrkw2lkyr2a 30 4 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 30 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 30 6 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 30 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 30 8 overlap overlap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 30 9 between between IN work_gtjtuksqxvhelgtzrkw2lkyr2a 30 10 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 30 11 entities entity NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 30 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 31 1 Cor Cor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 31 2 between between IN work_gtjtuksqxvhelgtzrkw2lkyr2a 31 3 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 31 4 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 31 5 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 31 6 core core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 31 7 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 31 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 32 1 Missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 32 2 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 32 3 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 32 4 very very RB work_gtjtuksqxvhelgtzrkw2lkyr2a 32 5 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 32 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 32 7 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 32 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 33 1 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 2 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 33 3 current current JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 33 4 release release NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 5 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 6 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 33 7 ExAC ExAC NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 33 8 Browser Browser NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 33 9 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 33 10 http://exac.broadinstitute.org http://exac.broadinstitute.org NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 33 11 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 33 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 33 13 63 63 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 33 14 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 33 17 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 33 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 33 20 coding code VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 33 21 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 22 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 33 23 including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 33 24 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 25 sites site NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 33 26 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 33 27 UTRs utr NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 33 28 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 33 29 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 30 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 33 31 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 33 32 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 33 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 33 34 24 24 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 33 35 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 36 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 33 37 synonymous synonymous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 33 38 changes change NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 33 39 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 33 40 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 33 41 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 33 42 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 43 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 33 44 apparent apparent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 33 45 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 33 46 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 33 47 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 33 48 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 49 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 33 50 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 51 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 52 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 33 53 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 33 54 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 33 55 indels indel NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 33 56 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 33 57 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 34 1 Most Most JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 34 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 34 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 34 4 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 34 5 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 34 6 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 34 7 rare rare JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 34 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 34 9 76 76 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 34 10 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 34 11 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 34 12 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 34 13 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 34 14 being be VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 34 15 present present JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 34 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 34 17 only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 34 18 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 34 19 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 34 20 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 34 21 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 34 22 carriers carrier NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 34 23 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 34 24 allele allele NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 34 25 frequencies frequencie VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 34 26 well well RB work_gtjtuksqxvhelgtzrkw2lkyr2a 34 27 below below IN work_gtjtuksqxvhelgtzrkw2lkyr2a 34 28 0.01 0.01 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 34 29 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 34 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 35 1 This this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 35 2 makes make VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 35 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 35 4 interpreta- interpreta- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 35 5 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 35 6 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 35 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 35 8 pathogenicity pathogenicity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 35 9 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 35 10 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 35 11 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 35 12 extremely extremely RB work_gtjtuksqxvhelgtzrkw2lkyr2a 35 13 difficult difficult JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 35 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 36 1 Our -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 36 2 current current JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 36 3 recommendation recommendation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 4 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 36 5 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 6 only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 36 7 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 36 8 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 36 9 con- con- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 36 10 served serve VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 36 11 actin- actin- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 12 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 36 13 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 14 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 36 15 binding bind VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 36 16 sites site NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 36 17 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 18 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 36 19 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 36 20 readily readily RB work_gtjtuksqxvhelgtzrkw2lkyr2a 36 21 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 36 22 considered consider VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 23 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 24 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 36 25 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 36 26 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 36 27 all all PDT work_gtjtuksqxvhelgtzrkw2lkyr2a 36 28 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 36 29 others other NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 36 30 require require VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 36 31 functional functional JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 36 32 studies study NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 36 33 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 34 assessment assessment NN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 35 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 36 their -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 36 37 pathogenicity pathogenicity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 36 38 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 37 1 Actin- Actin- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 2 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 37 3 tropo- tropo- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 4 myosin myosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 37 6 binding bind VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 37 7 experiments experiment NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 37 8 may may MD work_gtjtuksqxvhelgtzrkw2lkyr2a 37 9 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 37 10 used use VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 11 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 12 this this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 37 13 purpose.27 purpose.27 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 14 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 15 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 16 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 17 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 37 18 “ " `` work_gtjtuksqxvhelgtzrkw2lkyr2a 37 19 classical classical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 20 ” " '' work_gtjtuksqxvhelgtzrkw2lkyr2a 37 21 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 37 22 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 23 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 24 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 37 25 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 26 disease- disease- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 27 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 37 28 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 37 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 30 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 31 may may MD work_gtjtuksqxvhelgtzrkw2lkyr2a 37 32 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 37 33 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 34 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 35 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 36 without without IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 37 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 38 rods,28 rods,28 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 39 core core JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 40 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 37 41 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 42 myopathy,29 myopathy,29 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 43 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 44 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 37 45 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 46 NM,30 NM,30 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 47 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 37 48 lethal lethal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 49 multiple multiple JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 50 pterygium pterygium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 51 syndrome.31 syndrome.31 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 52 To to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 53 date date NN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 54 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 37 55 only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 37 56 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 37 57 clearly clearly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 37 58 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 59 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 37 60 variant variant NN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 61 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 37 62 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 63 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 37 64 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 38 1 It -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 38 2 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 38 3 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 38 4 » » NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 38 5 100 100 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 38 6 kb kb NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 38 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 38 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 38 9 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 38 10 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 38 11 spanning span VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 38 12 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 38 13 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 38 14 14 14 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 38 15 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 38 16 89 89 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 38 17 resulting result VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 38 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 38 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 38 20 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 38 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 38 22 substantially substantially RB work_gtjtuksqxvhelgtzrkw2lkyr2a 38 23 smaller small JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 38 24 nebu- nebu- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 38 25 lin lin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 38 26 proteins proteins NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 38 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 38 28 expected expect VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 38 29 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 38 30 have have VB work_gtjtuksqxvhelgtzrkw2lkyr2a 38 31 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 38 32 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 38 33 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 38 34 negative negative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 38 35 effect effect NN work_gtjtuksqxvhelgtzrkw2lkyr2a 38 36 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 39 1 This this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 39 2 variant variant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 39 3 segregates segregate VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 39 4 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 39 5 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 39 6 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 39 7 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 39 8 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 39 9 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 39 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 39 11 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 39 12 3-generation 3-generation CD work_gtjtuksqxvhelgtzrkw2lkyr2a 39 13 Finnish finnish JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 39 14 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 39 15 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 40 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 40 2 Skeletal Skeletal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 3 Muscle Muscle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 4 Alpha Alpha NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 40 6 Actin Actin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 7 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 8 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 40 9 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 10 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 40 11 According accord VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 40 12 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 40 13 our -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 40 14 estimate estimate NN work_gtjtuksqxvhelgtzrkw2lkyr2a 40 15 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 40 16 23 23 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 40 17 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 40 18 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 40 19 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 20 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 40 21 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 22 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 40 23 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 40 24 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 40 25 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 40 26 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 40 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 41 1 Most Most JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 41 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 41 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 41 4 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 41 5 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 41 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 41 7 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 41 8 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 41 9 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 41 10 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 41 11 90 90 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 41 12 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 41 13 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 41 14 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 41 15 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 41 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 41 17 most most RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 41 18 often often RB work_gtjtuksqxvhelgtzrkw2lkyr2a 41 19 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 41 20 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 41 21 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 41 22 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 42 1 Of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 2 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 42 3 sporadic sporadic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 42 4 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 42 5 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 6 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 42 7 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 42 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 42 9 approxi- approxi- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 42 10 mately mately RB work_gtjtuksqxvhelgtzrkw2lkyr2a 42 11 85 85 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 42 12 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 13 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 42 14 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 15 shown show VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 16 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 42 17 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 42 18 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 19 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 20 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 42 21 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 42 22 mis- mis- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 42 23 sense sense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 42 24 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 42 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 43 1 Autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 2 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 3 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 4 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 5 rarer rare JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 43 6 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 43 7 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 43 8 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 9 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 43 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 11 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 43 12 result result VB work_gtjtuksqxvhelgtzrkw2lkyr2a 43 13 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 14 null null NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 15 alleles allele NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 16 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 43 17 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 18 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 20 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 22 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 23 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 24 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 43 25 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 43 26 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 27 variants).32 variants).32 VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 28 Dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 29 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 30 inherited inherit VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 31 across across IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 32 s s NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 33 27 27 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 43 34 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 35 implicated implicate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 36 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 37 various various JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 38 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 39 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 40 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 43 41 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 42 e e NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 43 - - NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 44 rod rod NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 45 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 46 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 43 47 included include VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 48 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 43 49 illustrate illustrate VB work_gtjtuksqxvhelgtzrkw2lkyr2a 43 50 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 43 51 overlap overlap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 52 http://exac.broadinstitute.org http://exac.broadinstitute.org NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 53 Table Table NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 54 Genes Genes NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 55 Causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 43 56 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 57 Myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 58 Disorder Disorder NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 59 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 60 Inheritance Inheritance NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 61 Other Other NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 62 Entities Entities NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 63 Caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 64 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 65 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 66 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 67 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 43 68 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 69 Nemaline Nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 70 myopathy myopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 71 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 72 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 73 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 74 AD ad NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 75 * * NFP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 76 Distal Distal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 77 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 78 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 79 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 80 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 81 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 82 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 83 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 84 core core JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 85 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 86 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 87 myopathy myopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 88 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 89 lethal lethal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 90 multiple multiple JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 91 pterygium pterygium NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 92 syndrome syndrome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 93 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 94 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 95 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 96 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 97 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 98 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 99 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 100 Actin Actin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 101 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 102 accumulation accumulation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 103 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 104 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 105 core core JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 106 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 107 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 108 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 109 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 110 intranuclear intranuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 111 rod rod NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 112 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 113 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 114 zebra zebra NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 115 body body NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 116 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 117 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 118 CFTD CFTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 119 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 120 progressive progressive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 121 scapuloperoneal scapuloperoneal NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 122 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 123 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 124 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 125 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 126 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 127 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 128 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 129 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 130 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 131 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 132 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 133 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 134 CFTD CFTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 135 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 136 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 137 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 138 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 139 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 140 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 141 AR† ar† CD work_gtjtuksqxvhelgtzrkw2lkyr2a 43 142 CFTD CFTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 143 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 144 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 145 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 146 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 147 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 148 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 149 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 150 arthrogryposis arthrogryposis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 151 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 152 Escobar Escobar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 153 syndrome syndrome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 154 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 43 155 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 156 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 43 157 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 158 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 159 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 160 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 161 LMOD3 lmod3 WRB work_gtjtuksqxvhelgtzrkw2lkyr2a 43 162 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 163 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 164 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 165 Cardiomyopathy Cardiomyopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 166 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 167 AD ad NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 168 KLHL40 klhl40 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 169 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 170 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 171 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 172 Core Core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 173 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 174 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 175 AD ad NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 176 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 177 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 178 Core Core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 179 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 180 rod rod NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 181 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 182 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 183 CFTD CFTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 184 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 185 malignant malignant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 186 hyperthermia hyperthermia NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 187 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 188 multi multi JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 189 - - JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 190 minicore minicore JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 191 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 192 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 193 ophthalmoplegia ophthalmoplegia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 194 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 195 arthrogryposis arthrogryposis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 196 multiplex multiplex NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 197 congenita congenita NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 198 SEPN1 sepn1 IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 199 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 200 Rigid rigid JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 201 spine spine NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 202 muscular muscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 203 dystrophy dystrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 204 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 205 CFTD CFTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 206 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 207 desmin desmin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 208 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 209 related relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 210 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 211 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 212 Mallory Mallory NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 213 body body NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 214 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 215 like like JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 216 inclusions inclusion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 217 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 218 myofibrillar myofibrillar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 219 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 220 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 221 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 222 TMD TMD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 223 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 224 LGMD2J LGMD2J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 225 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 226 HMERF HMERF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 227 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 228 adult adult NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 229 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 230 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 231 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 232 proximal proximal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 233 mus- mus- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 234 cular cular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 235 dystrophy dystrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 236 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 237 Emery Emery NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 238 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 239 Dreifuss Dreifuss NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 240 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 241 like like JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 242 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 243 without without IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 244 cardiomyopathy cardiomyopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 245 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 246 cardiomyopathy cardiomyopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 247 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 248 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 249 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 43 250 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 251 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 252 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 253 CFTD CFTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 254 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 255 myosin myosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 256 storage storage NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 257 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 258 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 43 259 hyaline hyaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 260 body body NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 261 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 262 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 43 263 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 264 cardiomyopathy cardiomyopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 265 MEGF10 MEGF10 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 266 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 267 Centronuclear Centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 268 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 269 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 270 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 271 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 272 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 273 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 274 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 275 CMTDIB CMTDIB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 276 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 277 CMT2 CMT2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 278 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 279 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 280 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 281 See see VB work_gtjtuksqxvhelgtzrkw2lkyr2a 43 282 above above IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 283 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 284 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 285 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 286 AD ad NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 287 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 288 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 289 See see VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 290 above above IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 291 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 292 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 293 CCDC78 CCDC78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 294 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 295 MYH MYH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 296 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 297 related relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 298 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 299 MYH2 MYH2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 300 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 301 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 302 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 303 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 304 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 305 See see VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 306 above above IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 307 MYH3 MYH3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 308 AD AD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 309 Distal Distal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 310 arthrogryposis arthrogryposis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 311 MYH8 MYH8 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 312 AD ad NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 313 Distal Distal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 314 arthrogryposis arthrogryposis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 315 Other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 316 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 317 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 43 318 CACNA1S CACNA1S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 319 AD ad NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 320 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 321 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 322 Hypokalemic hypokalemic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 323 periodic periodic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 324 paralysis paralysis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 325 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 326 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 43 327 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 328 malignant malignant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 329 hyperthermia hyperthermia NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 330 SCN4A SCN4A . work_gtjtuksqxvhelgtzrkw2lkyr2a 43 331 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 332 Hypokalemic hypokalemic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 333 periodic periodic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 334 paralysis paralysis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 335 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 336 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 43 337 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 338 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 339 myasthenic myasthenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 340 syndrome syndrome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 341 16 16 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 43 342 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 343 myotonia myotonia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 344 congenita congenita NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 345 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 346 paramyotonia paramyotonia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 347 congenita congenita NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 348 ZAK ZAK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 349 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 350 Split split NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 351 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 352 foot foot NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 353 malformation malformation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 354 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 355 mesoaxial mesoaxial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 356 polydactyly polydactyly CC work_gtjtuksqxvhelgtzrkw2lkyr2a 43 357 AD ad NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 358 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 359 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 360 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 361 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 43 362 AR AR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 363 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 364 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 365 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 366 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 43 367 CFTD CFTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 368 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 369 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 370 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 371 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 372 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 373 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 43 374 CMT CMT NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 375 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 376 Charcot Charcot NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 377 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 378 Marie Marie NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 379 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 380 Tooth Tooth NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 381 neuropathy neuropathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 382 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 43 383 HMERF HMERF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 384 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 385 hereditary hereditary JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 386 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 387 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 388 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 389 respiratory respiratory JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 390 failure failure NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 391 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 43 392 LGMD LGMD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 393 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 394 limb limb NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 395 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 43 396 girdle girdle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 397 muscular muscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 398 dystrophy dystrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 399 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 43 400 TMD TMD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 43 401 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 43 402 tibial tibial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 403 muscular muscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 43 404 dystrophy dystrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 43 405 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 44 1 * * NFP work_gtjtuksqxvhelgtzrkw2lkyr2a 44 2 Only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 44 3 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 44 4 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 44 5 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 44 6 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 44 7 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 44 8 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 44 9 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 44 10 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 44 11 date date NN work_gtjtuksqxvhelgtzrkw2lkyr2a 44 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 45 1 †Only †only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 45 2 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 45 3 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 45 4 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 45 5 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 45 6 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 45 7 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 45 8 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 45 9 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 45 10 date date NN work_gtjtuksqxvhelgtzrkw2lkyr2a 45 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 46 1 14 14 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 46 2 K. K. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 3 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 4 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 46 5 C. C. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 6 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 7 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 46 8 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 9 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 46 10 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 46 11 more more JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 46 12 generations generation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 46 13 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 14 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 15 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 17 less less JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 46 18 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 19 5 5 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 46 20 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 22 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 23 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 46 24 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 46 25 while while IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 26 mosaicism mosaicism NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 27 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 28 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 29 observed observe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 30 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 31 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 46 32 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 33 families.32 families.32 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 34 - - : work_gtjtuksqxvhelgtzrkw2lkyr2a 46 35 34 34 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 46 36 We -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 37 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 38 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 46 39 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 40 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 46 41 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 42 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 43 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 44 variant variant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 45 segregating segregating NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 46 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 47 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 46 48 3-generation 3-generation CD work_gtjtuksqxvhelgtzrkw2lkyr2a 46 49 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 50 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 51 clini- clini- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 52 cally cally RB work_gtjtuksqxvhelgtzrkw2lkyr2a 46 53 variable variable JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 54 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 55 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 46 56 illustrating illustrate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 46 57 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 46 58 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 59 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 46 60 histological histological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 61 vari- vari- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 62 ability ability NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 63 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 64 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 46 65 between between IN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 66 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 46 67 sharing share VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 46 68 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 46 69 same same JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 46 70 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 46 71 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 47 1 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 2 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 3 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 4 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 47 6 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 47 8 mostly mostly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 47 9 de de FW work_gtjtuksqxvhelgtzrkw2lkyr2a 47 10 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 47 12 disease disease NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 13 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 47 14 caus- caus- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 15 ing ing NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 16 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 47 17 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 18 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 19 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 47 20 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 47 21 actin actin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 22 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 47 23 accumulation accumulation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 24 myopa- myopa- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 25 thy,35 thy,35 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 26 cap cap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 27 myopathy,36 myopathy,36 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 28 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 29 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 30 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 31 disproportion,37 disproportion,37 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 32 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 33 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 47 34 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 35 myopathy,38 myopathy,38 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 36 intranuclear intranuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 37 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 38 myopathy,39,40 myopathy,39,40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 39 zebra zebra NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 40 body body NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 41 myopathy,41 myopathy,41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 42 progressive progressive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 43 scapuloperoneal scapuloperoneal NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 44 myopathy,42 myopathy,42 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 45 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 47 46 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 47 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 48 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 49 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 50 rods.43 rods.43 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 51 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 47 52 Alpha- Alpha- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 53 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 47 54 Beta Beta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 55 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 47 56 Tropomyosin Tropomyosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 57 Genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 47 58 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 47 59 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 60 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 47 61 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 62 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 47 63 Mutations Mutations NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 47 64 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 65 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 66 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 47 67 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 68 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 69 relatively relatively RB work_gtjtuksqxvhelgtzrkw2lkyr2a 47 70 rare rare JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 47 71 causes cause NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 47 72 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 73 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 47 74 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 47 75 accounting account VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 47 76 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 77 less less JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 47 78 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 79 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 47 80 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 81 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 47 82 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 47 83 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 47 84 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 48 1 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 2 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 3 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 4 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 48 6 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 48 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 8 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 9 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 48 10 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 11 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 48 12 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 48 13 cap cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 15 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 48 16 core- core- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 17 rod rod NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 18 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 48 20 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 48 21 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 22 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 23 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 24 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 48 25 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 48 26 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 27 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 28 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 29 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 48 30 arthrogryposes arthrogrypose NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 48 31 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 48 32 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 48 33 Escobar Escobar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 34 syndrome.5 syndrome.5 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 35 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 48 36 majority majority NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 37 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 38 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 48 39 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 48 40 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 41 both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 48 42 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 43 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 48 44 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 45 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 48 46 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 48 47 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 48 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 48 49 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 48 50 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 51 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 48 52 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 53 deletions deletion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 48 54 removing remove VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 48 55 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 48 56 amino amino NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 57 acid acid NN work_gtjtuksqxvhelgtzrkw2lkyr2a 48 58 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 49 1 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 49 2 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 49 3 recurrent recurrent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 49 4 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 49 5 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 6 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 49 7 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 49 8 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 49 9 both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 49 10 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 49 11 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 49 12 p p LS work_gtjtuksqxvhelgtzrkw2lkyr2a 49 13 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 49 14 Lys7del Lys7del NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 49 16 p p NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 17 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 49 18 Glu139del Glu139del NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 49 20 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 49 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 49 23 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 49 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 49 25 Arg168His Arg168His NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 26 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 49 27 p p NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 28 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 49 29 Arg168Cys arg168cys UH work_gtjtuksqxvhelgtzrkw2lkyr2a 49 30 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 49 31 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 49 32 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 49 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 49 34 Arg168Gly arg168gly LS work_gtjtuksqxvhelgtzrkw2lkyr2a 49 35 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 49 36 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 49 37 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 50 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 50 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 50 3 alter alter VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 50 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 50 5 conserved conserve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 6 coiled coil VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 7 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 50 8 coil coil NN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 9 structure structure NN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 10 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 11 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 50 12 tropomyosins tropomyosin NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 50 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 50 14 resulting result VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 50 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 16 aberrant aberrant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 50 17 tropomyosin tropomyosin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 50 18 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 50 19 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 20 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 50 21 binding.5,44 binding.5,44 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 22 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 50 23 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 50 24 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 50 25 more more RBR work_gtjtuksqxvhelgtzrkw2lkyr2a 50 26 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 50 27 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 28 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 50 29 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 30 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 50 31 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 50 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 51 1 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 2 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 3 only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 51 4 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 51 5 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 6 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 7 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 8 muta- muta- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 9 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 10 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 11 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 12 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 51 14 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 51 15 Escobar Escobar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 16 syndrome syndrome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 17 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 18 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 19 NM.45 NM.45 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 20 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 21 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 22 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 51 23 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 51 24 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 25 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 26 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 51 28 including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 51 29 non- non- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 30 sense sense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 31 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 51 32 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 33 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 51 34 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 51 35 stop stop VB work_gtjtuksqxvhelgtzrkw2lkyr2a 51 36 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 51 37 lost lose VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 38 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 39 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 40 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 41 described.46 described.46 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 42 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 43 49 49 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 51 44 NMs nm NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 45 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 46 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 47 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 48 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 49 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 50 usually usually RB work_gtjtuksqxvhelgtzrkw2lkyr2a 51 51 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 52 milder milder NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 53 presentations presentation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 54 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 55 NMs NMs NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 56 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 57 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 58 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 59 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 60 TPM3.5 TPM3.5 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 51 61 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 62 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 63 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 64 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 65 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 66 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 51 67 these these DT work_gtjtuksqxvhelgtzrkw2lkyr2a 51 68 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 51 69 appears appear VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 70 mostly mostly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 51 71 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 51 72 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 51 73 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 51 74 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 52 1 No no DT work_gtjtuksqxvhelgtzrkw2lkyr2a 52 2 clear clear JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 52 3 correlation correlation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 52 4 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 52 5 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 52 6 between between IN work_gtjtuksqxvhelgtzrkw2lkyr2a 52 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 52 8 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 52 9 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 52 10 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 52 11 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 52 12 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 52 13 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 52 14 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 52 15 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 53 1 Cap Cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 2 formation formation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 3 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 5 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 6 biopsy biopsy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 7 may may MD work_gtjtuksqxvhelgtzrkw2lkyr2a 53 8 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 53 9 seen see VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 11 disorders disorder NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 53 12 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 13 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 53 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 16 either either DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 17 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 53 19 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 53 20 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 21 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 53 22 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 23 hypotrophy hypotrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 24 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 53 25 predominance predominance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 26 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 27 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 29 both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 30 groups.5 groups.5 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 31 Furthermore furthermore RB work_gtjtuksqxvhelgtzrkw2lkyr2a 53 32 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 53 33 we -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 34 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 35 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 36 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 37 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 38 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 53 39 17 17 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 53 40 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 53 41 21 21 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 53 42 kb kb NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 43 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 44 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 45 that that WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 46 removes remove VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 47 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 48 promoter promoter NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 49 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 53 50 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 51 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 52 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 53 53 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 53 54 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 55 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 56 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 53 57 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 53 58 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 59 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 60 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 61 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 62 NM.2 NM.2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 63 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 64 Troponin Troponin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 65 T1 T1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 66 Gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 67 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 53 68 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 69 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 53 70 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 71 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 72 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 73 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 74 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 75 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 53 76 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 77 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 78 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 79 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 80 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 53 81 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 82 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 83 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 84 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 85 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 86 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 87 tremor tremor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 88 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 89 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 90 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 91 months month NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 53 92 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 93 life life NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 94 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 53 95 contractures contracture NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 53 96 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 97 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 98 Old Old NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 99 Order Order NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 100 Amish Amish NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 101 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 53 102 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 53 103 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 104 almost almost RB work_gtjtuksqxvhelgtzrkw2lkyr2a 53 105 20 20 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 53 106 years year NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 53 107 ago.18 ago.18 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 108 Not not RB work_gtjtuksqxvhelgtzrkw2lkyr2a 53 109 until until IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 110 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 53 111 have have VB work_gtjtuksqxvhelgtzrkw2lkyr2a 53 112 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 113 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 114 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 115 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 53 116 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 53 117 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 53 118 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 53 119 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 120 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 121 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 122 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 123 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 53 124 all all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 53 125 showing show VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 53 126 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 53 127 inheritance inheritance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 53 128 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 54 1 Compound compound NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 2 heterozygosity heterozygosity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 3 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 4 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 5 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 6 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 7 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 8 resulting result VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 54 9 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 10 skipping skipping NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 11 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 12 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 13 exon exon NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 14 8 8 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 54 15 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 54 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 54 17 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 18 exon exon JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 19 14 14 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 54 20 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 21 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 54 22 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 24 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 25 Dutch dutch JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 26 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 27 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 28 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 29 similar similar JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 30 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 31 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 32 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 33 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 34 Amish amish JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 35 NM.50 nm.50 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 36 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 37 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 38 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 39 similar similar JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 40 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 41 Amish Amish NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 42 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 43 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 54 44 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 54 45 observed observe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 46 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 47 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 48 Hispanic hispanic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 49 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 50 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 51 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 52 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 53 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 54 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 55 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 54 56 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 57 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 58 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 59 Amish amish JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 60 one one NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 61 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 54 62 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 63 TNNT1.51 tnnt1.51 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 54 64 Homozygosity Homozygosity NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 65 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 66 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 67 complex complex JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 68 indel indel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 69 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 70 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 71 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 72 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 54 73 premature premature JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 74 truncation truncation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 75 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 76 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 77 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 78 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 79 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 80 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 81 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 82 9 9 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 54 83 unrelated unrelated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 84 Palestinian palestinian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 85 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 54 86 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 87 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 88 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 89 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 90 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 91 NM.52 NM.52 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 92 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 93 Cofilin-2 Cofilin-2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 94 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 95 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 54 96 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 97 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 54 98 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 99 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 54 100 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 101 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 54 102 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 103 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 104 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 105 rare rare JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 54 106 causes cause NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 54 107 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 54 108 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 54 109 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 55 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 55 2 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 55 3 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 55 4 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 55 5 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 55 6 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 55 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 55 8 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 55 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 56 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 56 2 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 56 3 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 4 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 56 6 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 7 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 56 8 Ala35Thr ala35thr UH work_gtjtuksqxvhelgtzrkw2lkyr2a 56 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 56 10 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 56 11 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 12 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 56 13 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 56 14 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 56 15 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 16 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 56 17 minicores minicore NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 56 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 19 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 56 20 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 56 21 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 56 22 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 24 Middle Middle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 56 25 East- East- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 56 26 ern ern NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 27 origin origin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 28 showing show VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 56 29 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 56 30 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 31 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 56 32 delayed delay VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 33 milestones milestone NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 56 34 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 56 35 no no DT work_gtjtuksqxvhelgtzrkw2lkyr2a 56 36 facial facial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 56 37 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 38 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 56 39 foot foot NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 40 drop.20 drop.20 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 56 41 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 56 42 second second JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 56 43 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 56 44 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 45 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 56 46 published publish VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 47 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 56 48 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 56 49 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 57 1 Again again RB work_gtjtuksqxvhelgtzrkw2lkyr2a 57 2 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 57 3 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 57 4 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 5 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 57 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 8 this this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 57 9 case case NN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 10 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 57 12 Val7Met Val7Met NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 57 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 57 14 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 57 15 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 17 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 57 18 sisters sister NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 57 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 20 Iraqi iraqi JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 57 21 Kurdish kurdish JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 57 22 origin origin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 24 axial axial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 57 25 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 57 26 limb limb NN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 27 girdle girdle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 57 28 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 29 who who WP work_gtjtuksqxvhelgtzrkw2lkyr2a 57 30 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 57 31 born bear VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 57 32 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 57 33 consan- consan- VB work_gtjtuksqxvhelgtzrkw2lkyr2a 57 34 guineous guineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 57 35 parents parent NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 57 36 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 58 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 58 2 sisters sister NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 58 3 had have VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 58 4 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 58 5 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 6 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 58 7 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 8 myofibril- myofibril- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 58 9 lar lar NN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 10 myopathy.53 myopathy.53 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 58 11 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 58 12 third third JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 58 13 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 14 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 16 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 58 17 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 58 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 58 19 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 58 20 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 58 21 base base NN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 22 pair pair NN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 23 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 24 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 58 25 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 58 26 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 58 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 58 28 p p LS work_gtjtuksqxvhelgtzrkw2lkyr2a 58 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 58 30 Lys34Glnfs*6 Lys34Glnfs*6 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 58 31 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 59 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 59 2 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 3 had have VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 59 4 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 5 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 59 6 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 7 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 8 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 9 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 11 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 59 12 Saudi saudi JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 13 Arabian arabian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 14 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 15 family.54 family.54 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 16 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 59 17 Leiomodin-3 Leiomodin-3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 18 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 19 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 59 20 LMOD3 lmod3 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 21 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 59 22 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 23 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 59 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 25 LMOD3 lmod3 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 26 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 27 hitherto hitherto VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 28 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 29 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 30 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 31 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 59 32 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 59 33 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 34 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 35 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 59 36 often often RB work_gtjtuksqxvhelgtzrkw2lkyr2a 59 37 lethal lethal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 38 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 59 39 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 40 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 41 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 59 42 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 59 43 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 44 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 59 45 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 59 46 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 59 47 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 48 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 49 perinatal perinatal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 59 50 fractures.24,55 fractures.24,55 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 51 Most Most JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 59 52 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 53 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 59 54 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 59 55 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 56 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 57 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 59 58 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 59 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 59 60 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 59 61 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 62 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 63 leiomodin-3 leiomodin-3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 59 64 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 65 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 59 66 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 60 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 60 2 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 60 3 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 60 4 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 5 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 60 6 compound compound JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 7 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 8 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 9 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 60 10 mutations.24 mutations.24 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 11 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 60 12 Myopalladin Myopalladin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 13 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 14 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 60 15 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 16 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 60 17 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 18 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 60 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 20 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 21 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 22 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 23 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 25 four four CD work_gtjtuksqxvhelgtzrkw2lkyr2a 60 26 fami- fami- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 27 lies lie VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 28 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 29 childhood childhood NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 30 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 60 31 adult adult NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 32 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 60 33 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 34 mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 35 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 36 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 60 37 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 60 38 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 39 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 60 40 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 60 41 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 42 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 43 slowly slowly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 60 44 progressive progressive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 45 cap cap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 46 myopathy.25,56 myopathy.25,56 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 47 All all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 60 48 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 49 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 60 50 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 51 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 52 date date NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 53 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 54 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 55 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 60 56 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 57 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 60 58 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 59 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 60 60 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 60 61 either either CC work_gtjtuksqxvhelgtzrkw2lkyr2a 60 62 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 63 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 60 64 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 65 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 60 66 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 67 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 68 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 60 69 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 60 70 leading lead VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 60 71 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 72 no no DT work_gtjtuksqxvhelgtzrkw2lkyr2a 60 73 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 60 74 very very RB work_gtjtuksqxvhelgtzrkw2lkyr2a 60 75 low low JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 76 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 77 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 78 myopalladin myopalladin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 60 79 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 80 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 60 81 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 60 82 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 61 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 61 2 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 61 3 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 61 4 either either CC work_gtjtuksqxvhelgtzrkw2lkyr2a 61 5 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 61 6 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 61 7 compound compound JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 61 8 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 61 9 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 61 10 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 61 11 muta- muta- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 61 12 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 61 13 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 62 1 Intranuclear intranuclear JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 2 rods rod NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 4 previously previously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 5 only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 6 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 7 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 8 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 9 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 11 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 12 observed observe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 13 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 14 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 15 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 16 biopsies biopsy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 17 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 18 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 20 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 21 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 22 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 23 mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 24 NM.25 NM.25 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 25 Interestingly interestingly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 26 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 27 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 28 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 29 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 30 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 31 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 32 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 33 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 34 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 62 35 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 36 dilated dilate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 37 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 38 familial familial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 39 hypertrophic hypertrophic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 40 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 41 familial familial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 42 restrictive restrictive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 43 cardiomyopathy.57 cardiomyopathy.57 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 44 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 45 59 59 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 46 Contrary Contrary NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 47 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 48 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 49 NM- NM- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 50 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 51 cap cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 52 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 53 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 62 54 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 62 55 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 56 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 57 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 58 cardiomyopathy- cardiomyopathy- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 59 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 62 60 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 61 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 62 lead lead VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 63 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 64 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 65 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 66 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 67 mutant mutant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 68 proteins protein NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 69 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 70 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 71 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 62 72 negative negative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 73 effects effect NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 74 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 75 cardiomyocytes.58 cardiomyocytes.58 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 76 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 77 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 78 Repeat- Repeat- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 79 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 80 BTB BTB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 81 / / SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 62 82 POZ POZ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 83 Domain- Domain- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 84 Containing Containing NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 85 Protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 86 13 13 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 87 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 88 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 89 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 90 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 62 91 Like Like NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 92 40 40 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 93 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 94 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 95 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 96 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 62 97 Like like UH work_gtjtuksqxvhelgtzrkw2lkyr2a 62 98 41 41 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 99 Genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 100 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 62 101 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 102 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 103 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 104 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 105 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 106 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 107 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 62 108 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 109 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 110 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 111 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 112 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 113 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 114 encode encode NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 115 proteins protein NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 116 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 117 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 118 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 119 superfamily superfamily RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 120 including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 62 121 altogether altogether RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 122 66 66 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 123 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 124 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 125 63 63 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 126 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 127 members.60 members.60 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 128 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 129 interacts interact VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 130 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 131 Cullin Cullin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 132 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 133 ubiquitin ubiquitin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 134 ligase ligase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 135 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 136 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 137 this this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 138 interaction interaction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 139 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 140 required require VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 141 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 142 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 143 formation formation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 144 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 145 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 146 func- func- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 147 tional tional JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 148 Cul3 Cul3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 149 RING RING NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 150 ubiquitin ubiquitin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 151 ligase ligase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 152 complex complex NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 153 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 154 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 155 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 156 involved involve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 157 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 158 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 159 ubiquitination ubiquitination NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 160 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 161 proteins protein NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 162 destined destine VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 163 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 164 degradation.61 degradation.61 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 165 Three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 166 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 167 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 168 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 169 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 170 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 171 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 62 172 Arg248Ser arg248ser UH work_gtjtuksqxvhelgtzrkw2lkyr2a 62 173 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 174 p p NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 175 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 62 176 Lys390Asn Lys390Asn NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 177 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 178 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 179 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 180 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 62 181 Arg408Cys arg408cys ADD work_gtjtuksqxvhelgtzrkw2lkyr2a 62 182 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 183 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 184 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 185 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 186 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 187 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 62 188 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 189 auto- auto- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 190 somal somal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 191 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 192 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 193 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 194 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 195 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 196 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 197 unusual unusual JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 198 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 199 presen- presen- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 200 tations tation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 201 including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 62 202 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 203 characteristic characteristic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 204 slowness slowness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 205 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 206 movement.21 movement.21 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 207 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 208 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 209 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 210 shown show VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 211 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 212 bind bind VB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 213 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 214 stabilize stabilize VB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 215 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 216 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 217 LMOD3 LMOD3 JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 62 218 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 219 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 220 sarcomere sarcomere NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 221 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 222 as as RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 223 well well RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 224 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 225 prevent prevent NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 226 ubiquitination ubiquitination NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 227 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 228 LMOD3.62 LMOD3.62 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 229 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 230 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 231 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 232 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 233 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 234 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 62 235 fairly fairly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 236 com- com- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 237 mon mon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 238 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 239 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 240 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 241 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 242 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 243 often often RB work_gtjtuksqxvhelgtzrkw2lkyr2a 62 244 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 245 fetal fetal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 246 akinesia akinesia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 247 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 248 hypoki- hypoki- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 249 nesia nesia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 62 250 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 251 contractures contracture NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 252 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 253 fractures fracture NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 254 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 255 respiratory respiratory JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 62 256 failure failure NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 257 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 62 258 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 62 259 swallowing swallow VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 62 260 difficulties difficulty NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 62 261 at at IN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 262 birth birth NN work_gtjtuksqxvhelgtzrkw2lkyr2a 62 263 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 63 1 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 2 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 3 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 4 account account NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 5 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 6 up up IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 7 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 63 8 28 28 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 63 9 % % NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 10 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 11 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 12 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 13 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 14 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 17 Japanese japanese JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 18 popula- popula- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 19 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 20 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 21 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 22 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 23 founder founder NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 24 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 25 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 63 26 p p NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 63 28 Glu528Lys.22 Glu528Lys.22 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 29 One one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 63 30 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 31 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 32 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 33 mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 34 form form NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 35 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 36 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 37 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 38 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 39 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 40 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 63 41 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 42 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 43 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 44 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 45 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 46 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 47 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 63 48 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 49 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 63 50 Arg500Cys Arg500Cys NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 51 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 63 52 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 53 KLHL40.63 klhl40.63 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 54 This this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 55 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 56 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 57 not not RB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 58 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 59 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 60 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 61 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 62 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 63 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 64 published publish VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 65 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 66 date.22,64,65 date.22,64,65 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 67 Furthermore furthermore RB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 68 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 63 69 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 63 70 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 71 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 72 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 73 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 74 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 75 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 76 compound compound JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 77 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 78 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 79 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 80 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 81 showed show VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 63 82 pro- pro- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 83 longed long VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 63 84 beneficial beneficial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 85 response response NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 86 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 87 treatment treatment NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 88 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 89 high high RB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 90 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 63 91 dose dose NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 92 acetyl- acetyl- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 93 cholinesterase cholinesterase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 94 inhibitors inhibitor NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 95 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 63 96 pyridostigmine).66 pyridostigmine).66 IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 97 Such such PDT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 98 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 63 99 response response NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 100 16 16 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 63 101 K. K. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 102 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 103 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 63 104 C. C. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 105 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 106 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 63 107 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 108 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 109 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 110 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 111 observed observe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 112 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 113 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 114 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 115 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 116 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 63 117 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 118 example example NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 119 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 63 120 myotubular myotubular NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 121 / / SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 63 122 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 123 myopathy.67 myopathy.67 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 124 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 125 shows show VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 126 high high JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 127 homology homology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 128 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 129 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 130 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 63 131 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 63 132 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 133 preferentially preferentially RB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 134 stabilizes stabilize VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 135 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 136 rather rather RB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 137 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 138 LMOD3.68 lmod3.68 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 139 Five five CD work_gtjtuksqxvhelgtzrkw2lkyr2a 63 140 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 141 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 142 clinically clinically RB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 143 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 144 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 145 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 146 NM NM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 147 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 148 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 149 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 150 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 63 151 have have VB work_gtjtuksqxvhelgtzrkw2lkyr2a 63 152 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 63 153 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 63 154 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 63 155 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 63 156 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 64 1 Frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 3 correlated correlate VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 64 4 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 5 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 6 phenotypes phenotype NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 7 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 8 neonatal neonatal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 9 death death NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 11 whereas whereas IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 12 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 13 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 14 resulted result VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 64 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 16 impaired impaired JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 17 motor motor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 18 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 19 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 20 survival survival NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 21 into into IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 22 late late JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 23 childhood childhood NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 24 and/or and/or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 64 25 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 26 adult- adult- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 27 hood hood NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 64 28 compatible compatible JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 29 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 30 mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 31 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 32 typical typical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 33 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 64 34 intermediate intermediate JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 35 NM.23 nm.23 UH work_gtjtuksqxvhelgtzrkw2lkyr2a 64 36 Core Core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 64 37 Myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 38 Central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 39 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 40 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 41 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 42 minicore minicore NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 64 43 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 64 44 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 45 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 64 46 multiminicore multiminicore NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 64 47 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 48 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 64 49 historical historical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 50 definitions definition NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 51 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 52 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 53 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 54 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 55 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 56 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 57 that that RB work_gtjtuksqxvhelgtzrkw2lkyr2a 64 58 is is RB work_gtjtuksqxvhelgtzrkw2lkyr2a 64 59 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 60 areas area NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 61 devoid devoid JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 62 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 63 mitochondria mitochondria NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 64 64 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 64 65 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 66 thus thus RB work_gtjtuksqxvhelgtzrkw2lkyr2a 64 67 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 64 68 lack lack NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 69 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 70 oxidative oxidative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 64 71 enzyme enzyme NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 72 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 73 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 74 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 64 75 biopsies biopsy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 64 76 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 65 1 There there EX work_gtjtuksqxvhelgtzrkw2lkyr2a 65 2 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 65 3 patho- patho- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 65 4 logic logic NN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 65 6 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 65 7 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 65 8 genetic genetic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 65 9 overlap overlap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 11 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 65 12 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 65 13 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 14 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 65 15 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 65 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 65 17 thus thus RB work_gtjtuksqxvhelgtzrkw2lkyr2a 65 18 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 65 19 term term NN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 20 “ " `` work_gtjtuksqxvhelgtzrkw2lkyr2a 65 21 core core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 65 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 65 23 ” " '' work_gtjtuksqxvhelgtzrkw2lkyr2a 65 24 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 65 25 nowadays nowadays RB work_gtjtuksqxvhelgtzrkw2lkyr2a 65 26 preferentially preferentially RB work_gtjtuksqxvhelgtzrkw2lkyr2a 65 27 used.11 used.11 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 65 28 Five five CD work_gtjtuksqxvhelgtzrkw2lkyr2a 65 29 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 65 30 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 65 31 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 32 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 33 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 65 34 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 65 35 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 65 36 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 65 37 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 66 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 66 2 ryanodine ryanodine JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 3 receptor receptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 4 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 66 5 encoding encoding NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 6 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 66 8 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 66 10 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 66 11 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 66 12 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 13 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 66 14 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 66 15 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 66 16 discovered,69,70 discovered,69,70 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 66 18 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 19 now now RB work_gtjtuksqxvhelgtzrkw2lkyr2a 66 20 known know VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 21 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 22 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 66 23 major major JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 24 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 25 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 26 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 66 27 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 66 28 gene.71 gene.71 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 29 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 66 30 sec- sec- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 31 ond ond IN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 32 most most RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 66 33 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 34 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 35 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 36 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 66 37 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 66 38 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 39 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 66 40 SEPN1 sepn1 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 41 enco- enco- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 42 des des NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 43 selenoprotein selenoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 44 N.72 N.72 -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 66 45 Occasional Occasional NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 46 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 66 47 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 66 48 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 49 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 66 50 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 51 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 66 52 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 53 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 54 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 55 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 66 56 satellite satellite NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 57 cell cell NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 58 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 59 MEGF10,73 MEGF10,73 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 60 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 66 61 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 62 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 63 TTN,74 ttn,74 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 66 64 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 66 65 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 66 66 myosin myosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 67 heavy heavy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 66 68 chain chain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 69 encoding encoding NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 70 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 71 MYH775 MYH775 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 72 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 66 73 Fig Fig NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 74 . . NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 66 75 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 66 76 Table table NN work_gtjtuksqxvhelgtzrkw2lkyr2a 66 77 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 66 78 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 67 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 67 2 Ryanodine Ryanodine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 67 3 Receptor Receptor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 67 4 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 67 5 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 67 6 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 67 7 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 67 8 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 67 9 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 67 10 encodes encode VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 67 11 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 67 12 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 67 13 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 14 specific specific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 67 15 ryanodine ryanodine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 67 16 receptor receptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 17 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 67 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 67 19 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 67 20 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 67 21 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 67 22 calcium calcium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 23 release release NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 24 channel channel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 25 involved involve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 26 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 27 excitation- excitation- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 28 contraction contraction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 29 coupling couple VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 67 30 activating activate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 67 31 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 32 contraction contraction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 67 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 68 1 Both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 68 2 domi- domi- XX work_gtjtuksqxvhelgtzrkw2lkyr2a 68 3 nant nant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 4 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 68 5 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 6 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 68 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 8 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 9 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 10 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 11 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 12 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 68 13 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 68 14 core core JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 15 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 68 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 68 17 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 68 18 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 68 19 related related JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 20 disorders disorder NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 68 21 such such JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 22 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 23 core core JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 24 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 68 25 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 26 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 68 28 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 29 FTD FTD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 30 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 68 31 centronuclear centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 32 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 33 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 68 34 as as RB work_gtjtuksqxvhelgtzrkw2lkyr2a 68 35 well well RB work_gtjtuksqxvhelgtzrkw2lkyr2a 68 36 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 37 malignant malignant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 38 hyperthermia hyperthermia NN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 39 susceptibility.6,76 susceptibility.6,76 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 40 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 41 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 42 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 68 43 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 44 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 45 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 46 106 106 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 68 47 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 68 48 encoding encode VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 68 49 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 68 50 polypeptide polypeptide NN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 51 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 52 5037 5037 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 68 53 amino amino JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 54 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 68 55 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 68 56 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 68 57 forms form VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 68 58 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 68 59 subunits subunit NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 68 60 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 61 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 68 62 tetramer tetramer NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 63 calcium calcium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 64 release release NN work_gtjtuksqxvhelgtzrkw2lkyr2a 68 65 channel channel NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 68 66 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 69 1 More More JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 69 2 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 3 200 200 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 69 4 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 5 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 6 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 7 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 8 reported.77,78 reported.77,78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 9 Most Most JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 10 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 11 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 69 12 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 13 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 14 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 69 15 malignant malignant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 16 hyperthermia hyperthermia NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 17 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 18 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 19 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 20 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 21 changing change VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 69 22 conserved conserve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 23 amino amino NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 24 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 25 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 69 26 many many JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 27 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 28 them -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 29 clustered cluster VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 30 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 31 specific specific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 32 hotspot hotspot NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 33 regions region NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 34 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 35 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 69 36 N n NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 37 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 69 38 terminus terminus NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 39 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 69 40 central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 41 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 42 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 69 43 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 44 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 69 45 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 46 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 69 47 terminal terminal NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 48 transmembrane transmembrane JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 49 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 50 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 51 RYR1.71,76 RYR1.71,76 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 52 De De NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 53 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 54 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 55 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 56 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 57 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 58 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 59 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 60 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 69 61 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 69 62 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 63 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 69 64 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 65 myopathy.79 myopathy.79 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 66 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 69 67 81 81 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 68 Recessive Recessive NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 69 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 70 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 71 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 72 widespread widespread JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 73 throughout throughout IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 74 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 69 75 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 76 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 69 77 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 78 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 79 such such JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 80 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 81 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 82 generally generally RB work_gtjtuksqxvhelgtzrkw2lkyr2a 69 83 more more RBR work_gtjtuksqxvhelgtzrkw2lkyr2a 69 84 severely severely RB work_gtjtuksqxvhelgtzrkw2lkyr2a 69 85 affected affected JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 86 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 87 those those DT work_gtjtuksqxvhelgtzrkw2lkyr2a 69 88 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 89 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 69 90 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 91 mutation.82,83 mutation.82,83 VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 92 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 69 93 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 94 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 95 include include VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 69 96 null null JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 69 97 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 98 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 69 99 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 69 100 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 69 101 com- com- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 102 binations bination NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 103 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 104 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 69 105 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 69 106 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 70 1 Among among IN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 2 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 70 3 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 4 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 70 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 70 6 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 70 7 recurrent recurrent NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 8 allele allele RB work_gtjtuksqxvhelgtzrkw2lkyr2a 70 9 carrying carry VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 70 10 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 70 11 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 12 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 13 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 70 14 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 70 15 p. p. NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 16 Ile1571Val Ile1571Val NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 70 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 70 18 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 19 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 70 20 Arg3366His arg3366his UH work_gtjtuksqxvhelgtzrkw2lkyr2a 70 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 70 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 70 23 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 70 25 Tyr3933Cys Tyr3933Cys NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 70 26 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 70 27 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 28 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 29 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 30 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 31 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 70 32 Dutch dutch JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 33 population population NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 34 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 70 35 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 70 36 it -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 70 37 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 38 unclear unclear JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 39 whether whether IN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 40 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 70 41 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 42 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 70 43 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 70 44 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 45 causative causative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 70 46 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 70 47 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 70 48 if if IN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 49 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 70 50 combination combination NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 51 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 52 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 70 53 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 70 54 all all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 70 55 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 70 56 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 70 57 cause cause IN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 58 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 70 59 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 71 1 Furthermore furthermore RB work_gtjtuksqxvhelgtzrkw2lkyr2a 71 2 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 71 3 this this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 4 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 71 5 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 6 variant- variant- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 7 carrying carry VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 71 8 allele allele NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 71 10 as as RB work_gtjtuksqxvhelgtzrkw2lkyr2a 71 11 well well RB work_gtjtuksqxvhelgtzrkw2lkyr2a 71 12 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 13 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 14 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 15 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 16 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 17 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 18 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 19 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 20 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 21 malignant malignant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 22 hyperthermia hyperthermia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 23 trait trait NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 25 heterozy- heterozy- DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 26 gous gous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 27 individuals individual NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 28 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 71 29 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 71 30 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 71 31 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 32 RYR1-related ryr1-related JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 33 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 34 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 35 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 36 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 71 37 compound compound JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 38 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 39 individuals.83 individuals.83 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 40 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 41 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 42 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 43 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 44 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 71 45 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 46 single single JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 47 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 71 48 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 49 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 50 base base NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 51 pairs pair NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 52 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 71 53 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 71 54 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 55 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 56 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 71 57 scale scale NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 58 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 59 deletions deletion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 60 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 61 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 62 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 63 thies thie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 64 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 65 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 66 published.84,85 published.84,85 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 67 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 68 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 69 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 71 70 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 71 71 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 72 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 73 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 71 74 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 75 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 76 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 77 54 54 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 71 78 out out IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 79 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 80 106 106 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 71 81 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 71 82 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 83 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 71 84 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 71 85 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 86 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 87 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 88 child child NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 89 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 90 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 71 91 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 92 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 93 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 94 lethal lethal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 95 neonatal neonatal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 96 weak- weak- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 97 ness ness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 98 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 71 99 atypical atypical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 71 100 histopathologic histopathologic NN work_gtjtuksqxvhelgtzrkw2lkyr2a 71 101 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 71 102 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 72 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 72 2 child child NN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 3 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 72 4 compound compound VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 5 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 72 6 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 72 8 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 9 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 72 10 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 72 11 single single JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 72 12 amino amino NN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 13 acid acid NN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 14 duplication.84 duplication.84 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 72 15 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 72 16 second second JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 72 17 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 72 18 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 19 starts start NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 72 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 21 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 72 22 exon exon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 23 91 91 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 72 24 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 72 25 ends end NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 72 26 within within IN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 27 exon exon NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 72 28 98 98 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 72 29 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 72 30 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 72 31 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 72 32 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 72 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 73 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 2 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 3 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 73 4 detected detect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 5 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 6 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 7 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 8 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 9 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 10 late late JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 11 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 73 12 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 13 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 73 15 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 73 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 17 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 73 18 being be VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 73 19 compound compound VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 20 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 21 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 22 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 23 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 24 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 73 25 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 26 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 27 variant.85 variant.85 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 73 28 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 29 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 30 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 73 31 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 32 reces- reces- VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 33 sive sive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 34 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 35 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 36 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 73 37 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 73 38 70 70 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 73 39 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 73 40 71 71 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 73 41 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 42 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 43 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 44 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 45 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 46 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 47 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 48 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 49 arthrogryposis arthrogryposis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 50 multiplex multiplex NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 51 congenita.86 congenita.86 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 73 52 Tissue Tissue NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 73 53 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 73 54 specific specific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 55 epigenetic epigenetic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 56 silencing silencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 57 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 58 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 59 maternal maternal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 60 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 73 61 allele allele NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 73 62 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 63 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 64 documented document VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 65 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 66 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 73 67 cohort cohort NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 68 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 69 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 73 70 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 71 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 73 72 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 73 73 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 73 74 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 74 1 Silencing silence VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 74 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 74 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 74 4 maternal maternal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 74 5 allele allele NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 74 7 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 74 8 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 74 9 tissue tissue NN work_gtjtuksqxvhelgtzrkw2lkyr2a 74 10 unmasked unmask VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 74 11 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 74 12 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 74 13 paternal paternal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 74 14 allele allele RB work_gtjtuksqxvhelgtzrkw2lkyr2a 74 15 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 74 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 74 17 disease.9 disease.9 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 74 18 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 74 19 Selenoprotein Selenoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 20 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 21 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 22 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 74 23 SEPN1 SEPN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 24 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 74 25 SEPN1 SEPN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 26 encodes encode NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 74 27 selenoprotein selenoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 28 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 29 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 74 30 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 74 31 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 74 32 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 74 33 integral integral JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 74 34 mem- mem- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 35 brane brane NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 36 glycoprotein glycoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 74 37 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 74 38 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 74 39 endoplasmic endoplasmic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 74 40 reticulum reticulum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 74 41 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 75 1 SEPN1 SEPN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 2 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 3 expressed express VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 4 at at IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 5 high high JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 6 levels level NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 8 several several JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 9 human human JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 10 fetal fetal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 11 tissues tissue NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 75 13 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 75 14 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 15 thought think VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 16 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 75 17 have have VB work_gtjtuksqxvhelgtzrkw2lkyr2a 75 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 75 19 role role NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 21 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 22 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 23 development.87 development.87 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 24 SEPN1 SEPN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 25 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 26 physically physically RB work_gtjtuksqxvhelgtzrkw2lkyr2a 75 27 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 28 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 29 ryanodine ryanodine JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 30 receptors receptor NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 31 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 75 32 modifies modifie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 33 RYR RYR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 34 channel channel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 35 activity.88 activity.88 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 36 Furthermore furthermore RB work_gtjtuksqxvhelgtzrkw2lkyr2a 75 37 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 75 38 it -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 39 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 40 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 75 41 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 42 shown show VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 43 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 44 SEPN1 SEPN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 45 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 46 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 75 47 key key JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 48 component component NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 49 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 50 redox- redox- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 51 regulated regulated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 52 calcium calcium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 53 metabolism metabolism NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 54 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 55 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 75 56 endoplasmic endoplasmic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 57 reticulum reticulum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 58 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 75 59 through through IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 60 its -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 61 interaction interaction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 62 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 63 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 75 64 SERCA2 SERCA2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 65 calcium calcium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 66 pump.89 pump.89 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 67 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 68 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 69 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 75 70 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 71 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 75 72 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 73 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 74 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 75 SEPN1 SEPN1 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 76 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 77 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 78 entities entity NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 79 termed term VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 80 rigid rigid JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 81 spine spine NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 82 muscular muscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 83 dystrophy dystrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 84 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 75 85 core core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 86 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 87 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 75 88 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 89 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 90 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 91 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 92 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 75 93 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 75 94 desmin- desmin- RB work_gtjtuksqxvhelgtzrkw2lkyr2a 75 95 related related JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 96 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 97 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 98 Mallory Mallory NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 99 body body NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 100 - - : work_gtjtuksqxvhelgtzrkw2lkyr2a 75 101 like like JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 102 inclusions.72,90,91 inclusions.72,90,91 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 103 Due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 104 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 105 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 75 106 overlap overlap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 107 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 108 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 109 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 75 110 histopathologic histopathologic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 111 features feature VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 112 these these DT work_gtjtuksqxvhelgtzrkw2lkyr2a 75 113 disorders disorder NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 114 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 75 115 now now RB work_gtjtuksqxvhelgtzrkw2lkyr2a 75 116 collectively collectively RB work_gtjtuksqxvhelgtzrkw2lkyr2a 75 117 referred refer VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 118 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 119 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 120 SEPN1- sepn1- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 75 121 related relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 75 122 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 75 123 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 76 1 All all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 76 2 types type NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 76 3 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 4 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 76 5 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 76 6 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 7 identi- identi- VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 8 fied fie VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 9 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 10 SEPN1 SEPN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 76 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 76 12 many many JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 76 13 being be VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 76 14 truncating truncate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 76 15 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 16 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 76 17 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 18 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 76 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 76 20 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 76 21 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 22 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 76 23 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 76 24 conserved conserve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 25 amino amino NN work_gtjtuksqxvhelgtzrkw2lkyr2a 76 26 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 76 27 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 76 28 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 76 29 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 76 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 77 1 Homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 77 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 77 3 seem seem VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 77 4 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 77 5 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 77 6 surprisingly surprisingly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 77 7 prevalent prevalent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 77 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 77 9 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 77 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 11 affected affected JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 77 12 children child NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 77 13 born bear VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 14 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 15 non- non- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 16 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 77 17 parents.92,93 parents.92,93 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 77 18 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 77 19 Multiple Multiple NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 77 20 EGF EGF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 77 21 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 77 22 Like Like NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 77 23 Domain domain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 24 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 77 25 Gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 26 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 77 27 MEGF10 megf10 UH work_gtjtuksqxvhelgtzrkw2lkyr2a 77 28 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 77 29 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 77 30 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 77 31 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 77 32 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 33 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 34 minicores minicore NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 77 35 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 77 36 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 37 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 38 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 77 39 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 40 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 41 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 42 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 77 43 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 77 44 MEGF10 MEGF10 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 77 45 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 78 1 Three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 78 2 sib- sib- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 78 3 lings ling NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 78 4 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 78 5 compound compound NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 6 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 78 7 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 8 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 78 9 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 78 10 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 11 var- var- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 12 iants iant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 78 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 78 14 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 15 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 78 16 Cys326Arg Cys326Arg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 78 18 p p NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 19 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 78 20 Cys774Arg cys774arg NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 22 MEGF10.73 MEGF10.73 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 23 MEGF10 MEGF10 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 24 regulates regulate VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 78 25 myoblast myoblast NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 26 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 27 via via IN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 28 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 78 29 NOTCH NOTCH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 30 signalling signal VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 78 31 pathway pathway NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 32 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 78 33 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 34 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 35 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 36 17 17 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 78 37 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 78 38 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 78 39 interaction interaction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 40 between between IN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 41 MEGF10 MEGF10 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 42 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 78 43 NOTCH1 notch1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 44 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 78 45 impaired impair VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 46 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 47 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 78 48 p p NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 49 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 78 50 Cys774Arg Cys774Arg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 51 variant.94 variant.94 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 52 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 78 53 Titin Titin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 54 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 55 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 78 56 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 57 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 78 58 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 78 59 huge huge JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 78 60 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 78 61 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 62 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 63 363 363 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 78 64 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 78 65 encodes encode NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 78 66 titin titin RB work_gtjtuksqxvhelgtzrkw2lkyr2a 78 67 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 78 68 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 78 69 largest large JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 78 70 polypeptide polypeptide NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 71 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 72 nature nature NN work_gtjtuksqxvhelgtzrkw2lkyr2a 78 73 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 79 1 One one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 79 2 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 3 molecule molecule NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 4 reaches reach VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 5 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 6 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 79 7 Z z NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 8 disc disc NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 9 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 10 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 79 11 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 79 12 line line NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 13 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 14 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 79 15 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 79 17 cardiac cardiac JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 18 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 19 sarco- sarco- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 20 meres.95,96 meres.95,96 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 79 21 Given give VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 22 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 79 23 size size NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 24 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 25 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 26 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 79 27 it -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 79 28 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 29 not not RB work_gtjtuksqxvhelgtzrkw2lkyr2a 79 30 surprising surprising JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 31 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 32 sev- sev- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 33 eral eral JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 34 clinically clinically RB work_gtjtuksqxvhelgtzrkw2lkyr2a 79 35 distinct distinct JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 36 disorders disorder NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 79 37 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 79 38 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 39 and/or and/or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 79 40 cardiac cardiac JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 41 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 42 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 79 43 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 44 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 45 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 46 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 79 47 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 48 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 79 49 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 79 50 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 51 TTN.8 ttn.8 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 52 Most Most JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 79 53 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 54 these these DT work_gtjtuksqxvhelgtzrkw2lkyr2a 79 55 disorders disorder NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 79 56 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 79 57 adult adult NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 58 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 79 59 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 80 1 However however RB work_gtjtuksqxvhelgtzrkw2lkyr2a 80 2 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 80 3 five five CD work_gtjtuksqxvhelgtzrkw2lkyr2a 80 4 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 80 5 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 6 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 80 7 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 80 8 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 9 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 80 10 mus- mus- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 11 cle cle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 12 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 80 14 minicore minicore NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 15 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 80 16 like like JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 80 17 lesions lesion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 80 18 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 80 19 abundant abundant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 80 20 centrally centrally RB work_gtjtuksqxvhelgtzrkw2lkyr2a 80 21 located locate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 22 nuclei nucleus NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 80 23 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 80 24 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 80 25 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 80 26 childhood childhood NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 27 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 80 28 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 29 dilated dilate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 30 cardiomy- cardiomy- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 80 31 opathy opathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 80 32 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 80 33 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 34 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 80 35 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 80 36 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 80 37 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 38 truncating truncate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 80 39 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 80 40 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 80 41 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 42 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 80 43 C c NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 44 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 80 45 terminus terminus NN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 46 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 80 47 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 80 48 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 81 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 81 2 parents parent NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 81 3 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 81 4 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 81 5 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 6 both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 81 7 families.97 families.97 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 81 8 Furthermore furthermore RB work_gtjtuksqxvhelgtzrkw2lkyr2a 81 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 81 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 11 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 81 12 cohort cohort NN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 13 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 14 31 31 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 81 15 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 81 16 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 17 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 81 18 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 19 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 81 20 combined combine VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 21 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 22 primary primary JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 81 23 heart heart NN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 24 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 25 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 81 26 7 7 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 81 27 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 81 28 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 81 29 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 81 30 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 81 31 iden- iden- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 81 32 tified tifie VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 33 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 34 5 5 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 81 35 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 81 36 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 81 37 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 81 38 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 81 39 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 82 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 82 2 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 82 3 included include VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 82 4 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 82 5 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 82 6 truncating truncating JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 82 7 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 82 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 83 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 2 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 83 3 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 83 4 homo- homo- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 5 zygous zygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 6 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 83 7 compound compound JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 8 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 9 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 10 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 11 mutations.74 mutations.74 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 12 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 13 Myosin Myosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 14 Heavy Heavy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 15 Chain Chain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 16 7 7 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 83 17 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 18 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 83 19 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 20 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 83 21 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 22 majority majority NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 24 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 25 more more JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 83 26 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 27 500 500 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 83 28 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 29 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 83 30 iden- iden- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 31 tified tifie VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 32 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 33 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 34 slow slow JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 35 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 36 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 37 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 38 myosin myosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 39 heavy heavy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 40 chain chain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 41 encoding encoding NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 42 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 43 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 44 cause cause IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 45 cardiomyopathy.98 cardiomyopathy.98 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 46 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 47 subset subset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 48 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 49 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 83 50 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 83 51 cause cause VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 52 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 53 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 54 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 55 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 83 56 including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 83 57 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 83 58 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 59 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 60 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 83 61 myosin myosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 62 storage storage NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 63 myopathy.99 myopathy.99 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 64 More more RBR work_gtjtuksqxvhelgtzrkw2lkyr2a 83 65 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 83 66 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 83 67 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 68 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 69 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 70 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 71 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 72 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 73 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 83 74 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 83 75 myopathies.75,100 myopathies.75,100 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 76 Cullup Cullup NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 77 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 83 78 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 84 1 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 2 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 84 3 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 84 4 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 5 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 84 6 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 84 7 affected affect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 8 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 9 multiminicore multiminicore NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 84 10 disease disease NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 84 11 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 12 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 13 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 84 14 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 84 15 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 16 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 84 17 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 18 MYH7.75 myh7.75 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 19 Romero Romero NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 84 20 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 84 21 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 84 22 described describe VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 84 23 four four CD work_gtjtuksqxvhelgtzrkw2lkyr2a 84 24 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 84 25 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 26 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 84 27 3-generation 3-generation CD work_gtjtuksqxvhelgtzrkw2lkyr2a 84 28 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 29 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 30 autoso- autoso- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 84 31 mal mal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 84 32 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 84 33 central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 84 34 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 35 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 84 36 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 85 1 They -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 85 2 identified identify VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 85 3 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 85 4 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 85 5 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 6 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 8 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 85 9 that that WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 85 10 segregated segregate VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 85 11 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 12 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 85 13 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 85 16 family.100 family.100 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 85 17 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 85 18 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 85 19 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 21 these these DT work_gtjtuksqxvhelgtzrkw2lkyr2a 85 22 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 85 23 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 85 24 located locate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 25 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 26 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 85 27 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 85 28 tail tail NN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 29 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 30 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 85 31 close close JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 85 32 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 85 33 previously previously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 85 34 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 35 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 85 36 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 85 37 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 85 38 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 85 39 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 85 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 86 1 Centronuclear Centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 86 2 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 3 Centrally centrally RB work_gtjtuksqxvhelgtzrkw2lkyr2a 86 4 located locate VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 86 5 nuclei nucleus NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 86 8 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 9 fibers fiber NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 10 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 86 11 hallmarks hallmark NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 12 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 13 centronuclear centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 86 14 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 86 15 myotubular myotubular NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 86 16 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 86 17 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 18 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 86 19 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 86 20 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 86 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 86 22 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 86 23 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 86 24 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 25 biopsies biopsy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 26 may may MD work_gtjtuksqxvhelgtzrkw2lkyr2a 86 27 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 86 28 show show VB work_gtjtuksqxvhelgtzrkw2lkyr2a 86 29 additional additional JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 86 30 pathological pathological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 86 31 fea- fea- NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 32 tures ture NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 33 such such JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 86 34 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 35 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 36 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 86 37 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 38 predominance predominance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 39 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 86 40 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 41 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 86 42 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 43 hypo- hypo- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 44 trophy trophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 86 45 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 86 46 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 86 47 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 86 48 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 87 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 87 2 most most RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 87 3 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 87 4 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 87 5 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 87 6 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 87 7 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 87 8 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 87 9 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 87 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 87 11 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 87 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 87 13 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 87 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 87 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 87 16 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 87 17 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 88 1 Minor minor JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 88 2 causative causative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 88 3 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 88 4 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 88 5 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 88 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 88 7 CCDC78 CCDC78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 88 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 88 9 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 88 10 SPEG11 SPEG11 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 88 11 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 88 12 Fig Fig NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 88 13 . . NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 88 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 88 15 Table table NN work_gtjtuksqxvhelgtzrkw2lkyr2a 88 16 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 88 17 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 89 1 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 89 2 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 89 3 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 89 4 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 89 5 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 89 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 89 7 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 89 8 will will MD work_gtjtuksqxvhelgtzrkw2lkyr2a 89 9 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 89 10 discussed discuss VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 89 11 briefly briefly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 89 12 below below RB work_gtjtuksqxvhelgtzrkw2lkyr2a 89 13 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 90 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 90 2 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 90 3 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 90 4 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 90 5 will will MD work_gtjtuksqxvhelgtzrkw2lkyr2a 90 6 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 90 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 90 8 focus focus NN work_gtjtuksqxvhelgtzrkw2lkyr2a 90 9 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 90 10 separate separate JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 90 11 paragraphs paragraph NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 90 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 91 1 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 91 2 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 91 3 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 91 4 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 91 5 turned turn VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 91 6 out out RP work_gtjtuksqxvhelgtzrkw2lkyr2a 91 7 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 91 8 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 91 9 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 91 10 fairly fairly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 91 11 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 91 12 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 91 13 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 91 14 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 91 15 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 91 16 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 91 17 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 91 18 ARCNM ARCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 91 19 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 91 20 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 92 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 92 2 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 92 3 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 92 4 usually usually RB work_gtjtuksqxvhelgtzrkw2lkyr2a 92 5 compound compound VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 6 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 92 7 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 8 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 92 9 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 92 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 92 11 often often RB work_gtjtuksqxvhelgtzrkw2lkyr2a 92 12 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 92 13 truncating truncate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 92 14 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 15 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 16 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 92 17 allele allele NN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 18 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 92 19 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 92 20 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 21 one one NN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 22 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 92 23 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 92 24 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 92 25 allele allele NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 92 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 93 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 93 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 93 3 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 93 4 spread spread VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 93 5 all all RB work_gtjtuksqxvhelgtzrkw2lkyr2a 93 6 across across IN work_gtjtuksqxvhelgtzrkw2lkyr2a 93 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 93 8 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 93 9 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 93 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 94 1 Some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 94 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 94 4 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 5 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 94 6 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 8 ARCNM ARCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 9 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 94 10 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 11 previously previously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 94 12 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 13 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 15 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 16 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 17 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 94 18 malig- malig- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 94 19 nant nant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 94 20 hyperthermia hyperthermia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 21 susceptibility.101 susceptibility.101 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 22 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 23 104 104 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 94 24 Compound compound JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 94 25 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 94 26 truncating truncating JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 94 27 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 94 28 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 94 29 ARCNM ARCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 30 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 31 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 94 32 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 33 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 34 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 35 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 94 36 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 94 37 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 94 38 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 95 1 To to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 2 date date NN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 95 4 7 7 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 95 5 unrelated unrelated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 95 6 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 95 7 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 8 ARCNM ARCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 95 9 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 10 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 11 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 95 12 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 13 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 95 14 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 95 15 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 16 described.103,105,106 described.103,105,106 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 95 17 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 95 18 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 95 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 95 20 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 95 21 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 95 22 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 95 23 spread spread VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 24 all all RB work_gtjtuksqxvhelgtzrkw2lkyr2a 95 25 along along IN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 26 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 95 27 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 95 28 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 95 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 96 1 One one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 96 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 96 4 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 96 5 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 6 previously previously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 96 7 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 8 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 9 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 96 10 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 96 11 tibial tibial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 12 muscular muscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 13 dystrophy dystrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 96 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 96 16 another another DT work_gtjtuksqxvhelgtzrkw2lkyr2a 96 17 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 18 adult adult NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 96 20 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 21 cardiomyopathy cardiomyopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 23 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 96 24 het- het- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 25 erozygous erozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 26 state.105 state.105 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 27 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 96 28 Myotubularin Myotubularin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 29 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 30 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 96 31 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 32 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 96 33 Mutations Mutations NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 96 34 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 35 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 36 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 96 37 encoding encode VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 96 38 myotubularin myotubularin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 39 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 96 40 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 96 41 ubiquitously ubiquitously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 96 42 expressed express VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 43 lipid lipid NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 44 phosphatase phosphatase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 45 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 96 46 cause cause IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 47 X X NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 96 48 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 96 49 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 50 myotubular myotubular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 51 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 52 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 96 53 XLMTM).107 XLMTM).107 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 54 Myotubularin Myotubularin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 55 colocalizes colocalize VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 56 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 57 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 58 at at IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 59 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 96 60 junctional junctional JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 61 sarcoplasmic sarcoplasmic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 62 reticulum reticulum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 63 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 64 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 65 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 66 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 96 67 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 96 68 it -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 69 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 70 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 96 71 key key JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 72 regulator regulator NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 73 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 74 sarcoplasmic sarcoplasmic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 75 reticulum reticulum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 76 remodelling remodelle VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 96 77 together together RB work_gtjtuksqxvhelgtzrkw2lkyr2a 96 78 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 79 its -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 96 80 lipid lipid NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 81 substrate substrate NN work_gtjtuksqxvhelgtzrkw2lkyr2a 96 82 phosphatidyli- phosphatidyli- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 83 nositol nositol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 84 3-monophosphate 3-monophosphate CD work_gtjtuksqxvhelgtzrkw2lkyr2a 96 85 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 96 86 PtdIns3P PtdIns3P NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 96 87 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 96 88 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 97 1 Lack lack NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 3 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 97 4 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 5 leads lead VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 97 6 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 7 disorganisation disorganisation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 8 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 9 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 97 10 sarcoplasmic sarcoplasmic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 97 11 reticulum reticulum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 97 13 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 97 14 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 97 15 considered consider VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 16 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 97 17 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 97 18 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 97 19 primary primary JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 97 20 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 22 most most JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 97 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 24 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 97 25 organelle organelle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 97 26 positioning position VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 97 27 defects defect NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 97 28 observed observe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 30 muscles muscle NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 97 31 biopsies biopsy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 97 32 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 33 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 97 34 patients.108 patients.108 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 97 35 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 97 36 XLMTM xlmtm NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 37 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 97 38 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 97 39 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 97 40 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 41 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 97 42 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 97 43 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 44 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 97 45 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 46 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 97 47 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 48 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 97 49 spread spread VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 50 across across IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 51 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 97 52 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 97 53 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 97 54 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 55 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 97 56 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 97 57 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 98 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 98 2 majority majority NN work_gtjtuksqxvhelgtzrkw2lkyr2a 98 3 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 98 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 98 5 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 98 6 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 98 7 neonatally neonatally RB work_gtjtuksqxvhelgtzrkw2lkyr2a 98 8 severely severely RB work_gtjtuksqxvhelgtzrkw2lkyr2a 98 9 affected affected JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 98 10 boys boy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 98 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 99 1 Most Most JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 2 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 99 3 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 4 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 99 5 truncating truncate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 99 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 99 7 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 99 8 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 9 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 10 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 99 11 conserved conserve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 12 amino amino NN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 13 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 14 essential essential JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 99 15 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 16 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 99 17 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 18 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 99 19 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 99 20 also.109,110 also.109,110 IN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 21 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 99 22 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 99 23 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 99 24 deletions deletion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 25 removing remove VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 99 26 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 99 27 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 99 28 more more JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 99 29 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 99 30 exons exon NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 31 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 99 32 as as RB work_gtjtuksqxvhelgtzrkw2lkyr2a 99 33 well well RB work_gtjtuksqxvhelgtzrkw2lkyr2a 99 34 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 35 whole whole JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 99 36 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 99 37 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 38 deletions deletion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 39 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 40 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 99 41 including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 99 42 neighbouring neighbouring NN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 43 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 99 44 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 99 45 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 46 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 99 47 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 100 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 100 2 latter latter JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 3 causes cause VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 4 contiguous contiguous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 5 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 6 syndromes.3,109 syndromes.3,109 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 7 Several several JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 8 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 9 types type NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 10 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 11 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 12 pre pre JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 13 - - JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 14 mRNA mrna JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 15 splicing splicing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 16 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 100 17 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 18 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 19 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 100 20 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 21 described.109,111,112 described.109,111,112 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 22 Germ Germ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 23 line line NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 24 mosaicism mosaicism NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 25 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 26 de de FW work_gtjtuksqxvhelgtzrkw2lkyr2a 100 27 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 28 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 29 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 30 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 31 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 32 documented document VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 33 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 34 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 100 35 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 36 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 37 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 100 38 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 39 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 100 40 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 41 manifesting manifest VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 100 42 as as RB work_gtjtuksqxvhelgtzrkw2lkyr2a 100 43 paternal paternal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 44 transmission transmission NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 45 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 46 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 100 47 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 48 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 100 49 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 50 pathogenic pathogenic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 51 variant.109,113 variant.109,113 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 52 Evidence evidence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 53 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 54 accumulating accumulate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 100 55 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 56 there there EX work_gtjtuksqxvhelgtzrkw2lkyr2a 100 57 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 58 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 100 59 higher high JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 100 60 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 61 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 62 females female NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 63 manifesting manifest VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 100 64 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 65 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 66 previously previously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 100 67 antici- antici- VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 68 pated.3,114 pated.3,114 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 69 Females Females NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 70 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 71 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 72 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 100 73 usually usually RB work_gtjtuksqxvhelgtzrkw2lkyr2a 100 74 less less RBR work_gtjtuksqxvhelgtzrkw2lkyr2a 100 75 severely severely RB work_gtjtuksqxvhelgtzrkw2lkyr2a 100 76 affected affect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 77 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 78 males male NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 100 79 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 100 80 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 100 81 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 100 82 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 83 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 84 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 85 highly highly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 100 86 vari- vari- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 87 able able JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 100 88 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 89 age age NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 90 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 91 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 92 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 100 93 severity severity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 100 94 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 101 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 101 2 most most RBS work_gtjtuksqxvhelgtzrkw2lkyr2a 101 3 severely severely RB work_gtjtuksqxvhelgtzrkw2lkyr2a 101 4 affected affect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 101 5 females female NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 101 6 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 101 7 show show VB work_gtjtuksqxvhelgtzrkw2lkyr2a 101 8 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 101 9 similar similar JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 101 10 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 101 11 course course NN work_gtjtuksqxvhelgtzrkw2lkyr2a 101 12 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 101 13 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 101 14 severely severely RB work_gtjtuksqxvhelgtzrkw2lkyr2a 101 15 affected affect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 101 16 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 101 17 male male NN work_gtjtuksqxvhelgtzrkw2lkyr2a 101 18 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 102 1 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 2 general general JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 102 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 102 4 those those DT work_gtjtuksqxvhelgtzrkw2lkyr2a 102 5 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 102 6 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 102 7 that that WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 102 8 cause cause VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 102 9 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 102 10 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 102 11 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 12 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 13 males male NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 102 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 102 15 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 102 16 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 102 17 milder milder NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 18 phe- phe- VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 102 19 notype notype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 21 females female NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 102 22 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 102 23 probably probably RB work_gtjtuksqxvhelgtzrkw2lkyr2a 102 24 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 25 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 26 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 102 27 normal normal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 102 28 pattern pattern NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 29 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 30 approximately approximately RB work_gtjtuksqxvhelgtzrkw2lkyr2a 102 31 50 50 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 102 32 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 102 33 50 50 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 102 34 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 35 - - NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 36 chromosome chromosome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 37 inactivation inactivation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 38 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 102 39 females female NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 102 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 103 1 However however RB work_gtjtuksqxvhelgtzrkw2lkyr2a 103 2 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 103 3 there there EX work_gtjtuksqxvhelgtzrkw2lkyr2a 103 4 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 103 5 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 103 6 increased increase VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 7 prevalence prevalence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 8 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 9 highly highly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 103 10 skewed skewed JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 103 11 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 12 - - NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 13 chromosome chromosome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 14 inactivation inactivation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 16 females female NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 103 17 affected affect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 18 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 19 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 103 20 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 103 21 although although IN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 22 it -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 103 23 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 103 24 not not RB work_gtjtuksqxvhelgtzrkw2lkyr2a 103 25 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 26 possible possible JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 103 27 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 103 28 determine determine VB work_gtjtuksqxvhelgtzrkw2lkyr2a 103 29 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 103 30 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 31 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 103 32 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 33 chromosomes chromosome NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 103 34 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 103 35 preferentially preferentially RB work_gtjtuksqxvhelgtzrkw2lkyr2a 103 36 inactivated.114 inactivated.114 . work_gtjtuksqxvhelgtzrkw2lkyr2a 103 37 Not not RB work_gtjtuksqxvhelgtzrkw2lkyr2a 103 38 all all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 103 39 mani- mani- VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 103 40 festing feste VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 103 41 females female NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 103 42 show show VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 103 43 any any DT work_gtjtuksqxvhelgtzrkw2lkyr2a 103 44 skew skew JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 103 45 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 103 46 even even RB work_gtjtuksqxvhelgtzrkw2lkyr2a 103 47 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 48 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 49 tissue tissue NN work_gtjtuksqxvhelgtzrkw2lkyr2a 103 50 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 104 1 Interestingly interestingly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 104 2 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 104 3 dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 4 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 104 5 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 104 6 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 7 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 104 8 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 9 levels level NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 104 10 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 11 increased increase VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 12 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 13 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 104 14 muscles muscle NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 104 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 16 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 17 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 104 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 104 19 as as RB work_gtjtuksqxvhelgtzrkw2lkyr2a 104 20 well well RB work_gtjtuksqxvhelgtzrkw2lkyr2a 104 21 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 23 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 24 knock knock VB work_gtjtuksqxvhelgtzrkw2lkyr2a 104 25 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 104 26 out out RP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 27 mice mouse NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 104 28 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 104 29 indicating indicate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 104 30 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 31 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 32 may may MD work_gtjtuksqxvhelgtzrkw2lkyr2a 104 33 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 104 34 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 104 35 18 18 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 104 36 K. K. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 37 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 38 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 104 39 C. C. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 40 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 41 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 104 42 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 43 negative negative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 104 44 regulator regulator NN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 45 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 46 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 47 expression.115 expression.115 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 48 This this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 104 49 finding finding NN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 50 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 104 51 led lead VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 52 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 53 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 104 54 development development NN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 55 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 56 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 104 57 potential potential JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 104 58 therapeutic therapeutic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 104 59 approach approach NN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 60 aiming aim VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 104 61 towards towards IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 62 reducing reduce VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 104 63 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 64 levels level NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 104 65 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 66 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 104 67 muscles muscle NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 104 68 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 104 69 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 104 70 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 104 71 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 105 1 Proof proof NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 105 3 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 105 5 principle principle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 6 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 105 7 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 8 achieved achieve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 9 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 10 antisense antisense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 11 oligonucleotide oligonucleotide RB work_gtjtuksqxvhelgtzrkw2lkyr2a 105 12 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 105 13 mediated mediate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 14 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 15 knockdown knockdown VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 17 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 105 18 mouse mouse NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 19 model model NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 20 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 21 XLMTM.116 XLMTM.116 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 22 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 105 23 Dynamin Dynamin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 24 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 105 25 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 26 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 105 27 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 28 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 105 29 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 30 encodes encode VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 105 31 dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 32 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 105 33 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 105 34 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 105 35 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 105 36 GTPase gtpase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 37 involved involve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 38 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 39 diverse diverse JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 105 40 cellular cellular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 105 41 processes process NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 105 42 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 105 43 among among IN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 44 others other NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 105 45 endocytosis endocytosis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 46 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 105 47 cytoki- cytoki- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 48 nesis nesis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 105 49 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 105 50 phagocytosis phagocytosis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 51 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 105 52 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 105 53 cell cell NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 54 migration migration NN work_gtjtuksqxvhelgtzrkw2lkyr2a 105 55 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 106 1 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 2 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 3 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 4 cause cause NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 5 autosomal autosomal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 6 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 106 7 ADCNM ADCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 8 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 9 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 10 usually usually RB work_gtjtuksqxvhelgtzrkw2lkyr2a 106 11 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 12 adolescence adolescence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 13 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 106 14 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 106 15 childhood childhood NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 106 17 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 18 ptosis ptosis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 106 20 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 106 21 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 106 23 contractures contracture NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 24 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 106 25 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 106 26 often often RB work_gtjtuksqxvhelgtzrkw2lkyr2a 106 27 radial radial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 106 28 strands strand NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 30 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 31 fibers fiber NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 32 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 33 biopsy biopsy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 34 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 106 35 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 106 36 Charcot Charcot NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 37 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 106 38 Marie Marie NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 39 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 106 40 Tooth Tooth NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 41 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 106 42 CMT CMT NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 43 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 106 44 peripheral peripheral JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 106 45 neu- neu- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 46 ropathy ropathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 47 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 106 48 CMTDIB CMTDIB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 49 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 106 50 CMT2M).117 cmt2m).117 $ work_gtjtuksqxvhelgtzrkw2lkyr2a 106 51 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 52 119 119 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 106 53 However however RB work_gtjtuksqxvhelgtzrkw2lkyr2a 106 54 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 106 55 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 56 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 57 earlier early JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 106 58 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 59 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 60 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 61 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 62 due due JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 106 63 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 64 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 65 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 66 muta- muta- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 67 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 68 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 69 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 106 70 pleckstrin pleckstrin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 71 homology homology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 72 domain domain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 73 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 74 DNM2.120 DNM2.120 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 75 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 106 76 ADCNM ADCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 77 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 106 78 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 106 79 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 80 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 81 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 82 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 106 83 gain gain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 84 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 106 85 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 86 -function -function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 87 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 88 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 106 89 predominantly predominantly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 106 90 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 106 91 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 106 92 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 107 1 One one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 107 2 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 3 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 107 4 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 5 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 6 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 7 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 107 8 amino amino NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 9 acid acid NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 107 11 as as RB work_gtjtuksqxvhelgtzrkw2lkyr2a 107 12 well well RB work_gtjtuksqxvhelgtzrkw2lkyr2a 107 13 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 14 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 107 15 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 16 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 17 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 18 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 107 19 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 107 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 21 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 107 22 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 23 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 24 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 25 three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 107 26 amino amino JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 107 27 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 107 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 29 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 30 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 31 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 107 32 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 33 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 107 34 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 35 insertion insertion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 36 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 37 23 23 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 107 38 new new JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 107 39 amino amino JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 107 40 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 107 41 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 107 42 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 43 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 107 44 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 108 1 Many many JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 108 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 108 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 108 4 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 108 5 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 108 6 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 108 7 recurrent recurrent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 108 8 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 108 9 present present JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 108 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 108 11 several several JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 108 12 unrelated unrelated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 108 13 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 108 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 109 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 109 3 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 109 4 ADCNM ADCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 5 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 6 distinct distinct JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 7 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 8 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 9 ones one NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 109 10 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 109 11 CMT.119 cmt.119 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 12 Functional functional JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 13 studies study NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 109 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 15 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 16 ADCNM ADCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 17 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 18 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 109 19 show show VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 20 abnormal abnormal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 21 self self NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 22 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 109 23 assembly assembly NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 24 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 25 mutant mutant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 26 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 27 resulting result VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 109 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 29 abnormally abnormally RB work_gtjtuksqxvhelgtzrkw2lkyr2a 109 30 high high JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 31 GTPase GTPase JJS work_gtjtuksqxvhelgtzrkw2lkyr2a 109 32 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 33 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 34 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 35 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 36 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 109 37 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 38 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 39 turn turn NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 40 leads lead VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 41 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 42 T t NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 43 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 109 44 tubule tubule NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 45 fragmentation.121 fragmentation.121 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 46 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 47 hyperactive hyperactive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 48 mutant mutant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 49 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 50 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 51 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 52 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 53 potential potential JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 54 therapeutic therapeutic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 55 target target NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 56 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 57 ADCNM ADCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 58 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 109 59 that that RB work_gtjtuksqxvhelgtzrkw2lkyr2a 109 60 is is RB work_gtjtuksqxvhelgtzrkw2lkyr2a 109 61 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 109 62 downregulation downregulation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 63 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 64 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 65 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 66 should should MD work_gtjtuksqxvhelgtzrkw2lkyr2a 109 67 have have VB work_gtjtuksqxvhelgtzrkw2lkyr2a 109 68 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 69 similar similar JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 70 beneficial beneficial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 109 71 effect effect NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 72 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 73 ADCNM ADCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 74 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 75 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 76 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 77 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 78 muscle.116,121 muscle.116,121 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 79 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 80 Bridging Bridging NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 81 Integrator integrator NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 82 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 109 83 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 84 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 109 85 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 86 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 109 87 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 88 encodes encode NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 109 89 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 90 amphiphysin amphiphysin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 91 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 109 92 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 109 93 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 109 94 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 95 involved involve VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 96 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 97 mem- mem- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 109 98 brane brane NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 99 tubulation tubulation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 109 100 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 110 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 110 2 membrane membrane NN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 3 tubulation tubulation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 4 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 5 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 6 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 110 7 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 110 8 enhanced enhance VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 9 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 10 its -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 110 11 interaction interaction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 12 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 13 MTM1.122 MTM1.122 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 110 14 Nicot Nicot NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 110 15 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 110 16 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 110 17 described describe VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 110 18 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 110 19 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 110 20 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 21 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 110 22 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 110 23 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 110 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 110 25 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 110 26 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 110 27 years year NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 110 28 ago ago RB work_gtjtuksqxvhelgtzrkw2lkyr2a 110 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 111 1 Two two CD work_gtjtuksqxvhelgtzrkw2lkyr2a 111 2 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 111 3 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 111 4 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 111 5 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 111 6 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 111 7 variant variant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 111 8 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 111 9 shown show VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 111 10 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 111 11 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 111 12 ARCNM ARCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 111 13 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 111 14 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 111 15 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 111 16 childhood childhood NN work_gtjtuksqxvhelgtzrkw2lkyr2a 111 17 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 111 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 111 19 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 111 20 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 111 21 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 111 22 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 112 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 112 2 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 112 3 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 112 4 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 5 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 6 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 112 7 mutations.123 mutations.123 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 112 8 Subsequently Subsequently NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 112 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 112 10 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 112 11 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 12 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 13 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 14 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 112 16 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 112 17 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 18 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 19 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 20 muta- muta- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 21 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 22 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 112 23 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 24 published publish VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 25 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 26 causative causative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 27 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 28 ARCNM.124,125 ARCNM.124,125 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 112 29 Furthermore furthermore RB work_gtjtuksqxvhelgtzrkw2lkyr2a 112 30 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 112 31 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 112 32 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 33 acceptor acceptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 34 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 35 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 36 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 37 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 38 intron intron NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 112 39 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 112 40 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 112 41 abnormal abnormal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 42 splicing splicing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 43 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 44 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 112 45 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 46 muscle- muscle- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 47 specific specific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 48 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 112 49 exon exon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 50 11 11 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 112 51 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 112 52 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 53 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 54 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 112 55 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 56 rapidly rapidly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 112 57 progressive progressive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 58 ARCNM ARCNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 112 59 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 60 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 112 61 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 112 62 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 112 63 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 113 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 113 2 corre- corre- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 3 sponding sponde VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 113 4 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 5 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 6 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 113 7 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 8 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 113 9 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 113 10 mutated mutate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 11 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 12 canine canine NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 13 Inherited inherit VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 14 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 16 Great Great NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 17 Danes Danes NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 113 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 113 19 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 113 20 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 113 21 thus thus RB work_gtjtuksqxvhelgtzrkw2lkyr2a 113 22 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 113 23 represents represent VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 24 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 113 25 mammalian mammalian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 26 model model NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 27 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 28 BIN1-related BIN1-related NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 29 CNM.126 cnm.126 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 30 Dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 31 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 113 32 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 33 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 34 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 35 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 36 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 37 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 113 38 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 113 39 mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 40 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 113 41 adult adult NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 42 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 113 43 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 44 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 113 45 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 46 CNM.127,128 CNM.127,128 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 47 Three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 113 48 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 49 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 113 50 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 113 51 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 52 single single JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 53 base base NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 54 pair pair NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 55 deletions deletion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 113 56 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 57 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 113 58 stop stop NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 59 codon codon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 60 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 61 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 113 62 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 113 63 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 113 64 read read VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 65 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 113 66 through through NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 67 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 113 68 extension extension NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 69 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 70 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 113 71 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 72 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 113 73 52 52 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 113 74 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 75 amino amino JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 113 76 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 113 77 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 114 1 Two two CD work_gtjtuksqxvhelgtzrkw2lkyr2a 114 2 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 3 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 4 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 114 5 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 114 6 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 114 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 114 9 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 10 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 11 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 12 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 114 13 amino amino NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 14 acid acid NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 15 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 114 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 114 17 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 114 18 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 19 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 20 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 114 21 located locate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 23 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 114 24 N n NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 25 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 114 26 terminus terminus NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 27 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 28 BIN1.127 BIN1.127 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 29 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 114 30 second second JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 31 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 32 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 33 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 34 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 114 35 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 114 36 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 37 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 114 38 N n NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 39 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 114 40 terminus terminus NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 41 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 114 42 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 114 43 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 114 44 published.128 published.128 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 45 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 114 46 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 47 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 48 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 114 49 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 50 dis- dis- RB work_gtjtuksqxvhelgtzrkw2lkyr2a 114 51 tinct tinct VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 52 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 53 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 114 54 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 55 ones one NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 114 56 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 114 57 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 58 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 59 impacts impact NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 114 60 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 61 pro- pro- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 62 tein tein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 63 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 64 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 114 65 suggesting suggest VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 114 66 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 67 pathomechanisms pathomechanism NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 114 68 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 69 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 70 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 114 71 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 72 BIN1-related BIN1-related NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 73 CNM.127 CNM.127 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 74 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 114 75 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 76 Complex Complex NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 77 Locus Locus NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 78 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 79 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 114 80 SPEG speg NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 81 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 114 82 SPEG SPEG VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 114 83 interacts interact NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 114 84 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 85 myotubularin myotubularin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 86 at at IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 87 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 114 88 junctional junctional NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 89 sarcoplas- sarcoplas- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 90 mic mic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 91 reticulum reticulum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 114 92 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 93 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 114 94 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 114 95 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 115 1 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 115 2 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 115 3 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 115 4 expressed express VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 115 5 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 115 6 car- car- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 115 7 diac diac NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 115 8 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 115 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 116 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 116 2 first first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 116 3 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 116 4 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 116 5 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 116 6 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 116 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 116 8 6 6 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 116 9 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 116 10 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 116 11 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 116 12 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 116 13 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 116 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 117 1 In in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 117 2 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 117 3 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 117 4 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 117 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 117 6 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 117 7 unre- unre- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 117 8 lated late VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 117 9 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 117 10 had have VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 117 11 dilated dilate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 117 12 cardiomyopathy cardiomyopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 117 13 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 118 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 118 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 118 3 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 118 4 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 118 5 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 118 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 118 7 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 118 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 118 9 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 118 10 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 118 11 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 118 12 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 118 13 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 118 14 frameshifts frameshift NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 118 15 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 118 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 118 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 118 18 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 118 19 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 118 20 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 118 21 compound compound JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 118 22 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 118 23 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 118 24 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 118 25 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 118 26 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 118 27 mutations.129 mutations.129 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 118 28 Two Two NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 118 29 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 118 30 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 118 31 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 118 32 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 118 33 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 118 34 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 118 35 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 118 36 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 118 37 unrelated unrelated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 118 38 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 118 39 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 118 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 119 1 One one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 119 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 119 3 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 119 4 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 119 5 had have VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 119 6 dilated dilate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 119 7 cardiomyopathy cardiomyopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 119 8 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 119 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 120 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 120 2 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 3 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 4 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 5 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 120 6 car- car- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 7 diomyopathy diomyopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 8 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 120 9 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 120 10 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 11 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 120 12 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 13 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 120 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 120 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 120 17 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 18 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 19 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 20 without without IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 21 cardiac cardiac JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 120 22 involvement involvement NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 23 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 120 24 homo- homo- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 120 25 zygous zygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 120 26 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 27 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 120 28 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 29 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 30 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 31 SPEG.130 SPEG.130 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 32 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 120 33 Coiled Coiled NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 34 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 120 35 Coil Coil NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 36 Domain Domain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 37 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 120 38 Containing contain VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 120 39 Protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 40 78 78 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 120 41 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 42 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 120 43 CCDC78 CCDC78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 44 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 120 45 Only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 120 46 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 120 47 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 120 48 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 49 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 50 CCDC78 CCDC78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 51 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 120 52 CNM CNM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 120 53 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 54 atypical atypical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 120 55 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 120 56 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 120 57 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 58 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 59 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 60 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 120 61 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 62 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 63 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 120 64 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 120 65 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 120 66 generations generation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 120 67 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 121 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 121 2 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 3 changes change VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 121 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 121 5 acceptor acceptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 6 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 7 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 8 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 9 intron intron NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 121 10 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 121 11 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 12 CCDC78 CCDC78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 121 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 121 14 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 121 15 retention retention NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 17 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 121 18 intron intron NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 121 20 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 121 21 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 121 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 23 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 121 24 frame frame NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 25 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 26 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 121 27 coding code VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 121 28 sequence sequence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 121 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 122 1 This this DT work_gtjtuksqxvhelgtzrkw2lkyr2a 122 2 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 122 3 predicted predict VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 4 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 122 5 result result VB work_gtjtuksqxvhelgtzrkw2lkyr2a 122 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 7 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 122 8 addition addition NN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 9 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 10 74 74 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 122 11 amino amino JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 122 12 acids acid NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 122 13 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 14 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 122 15 protein.131 protein.131 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 16 Myosin Myosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 17 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 122 18 Related relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 19 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 122 20 Myosin Myosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 21 heavy heavy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 122 22 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 122 23 chain chain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 24 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 122 25 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 122 26 especially especially RB work_gtjtuksqxvhelgtzrkw2lkyr2a 122 27 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 28 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 122 29 MYH2 MYH2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 30 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 122 31 MYH3 MYH3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 32 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 122 33 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 122 34 MYH8 MYH8 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 35 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 36 implicated implicate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 37 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 38 various various JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 122 39 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 122 40 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 122 41 skel- skel- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 42 etal etal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 43 and/or and/or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 122 44 cardiac cardiac JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 122 45 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 46 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 122 47 Fig Fig NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 48 . . NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 122 49 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 122 50 Table table NN work_gtjtuksqxvhelgtzrkw2lkyr2a 122 51 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 122 52 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 123 1 Some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 123 2 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 123 3 these these DT work_gtjtuksqxvhelgtzrkw2lkyr2a 123 4 myopa- myopa- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 123 5 thies thie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 123 6 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 123 7 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 123 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 124 1 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 124 2 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 124 3 already already RB work_gtjtuksqxvhelgtzrkw2lkyr2a 124 4 discussed discuss VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 5 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 6 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 124 7 context context NN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 8 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 9 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 124 10 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 11 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 124 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 124 13 but but CC work_gtjtuksqxvhelgtzrkw2lkyr2a 124 14 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 124 15 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 124 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 17 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 124 18 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 124 19 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 124 20 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 124 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 124 22 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 23 example example NN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 24 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 124 25 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 124 26 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 27 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 28 dis- dis- IN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 29 proportion proportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 30 without without IN work_gtjtuksqxvhelgtzrkw2lkyr2a 124 31 any any DT work_gtjtuksqxvhelgtzrkw2lkyr2a 124 32 other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 124 33 specific specific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 124 34 histological histological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 124 35 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 124 36 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 125 1 One one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 125 2 such such JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 125 3 case case NN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 4 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 125 5 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 125 6 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 7 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 125 8 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 125 9 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 10 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 11 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 125 12 de de FW work_gtjtuksqxvhelgtzrkw2lkyr2a 125 13 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 125 14 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 125 15 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 16 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 17 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 18 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 125 19 skipping skipping NN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 21 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 125 22 exon exon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 23 38.132 38.132 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 125 24 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 125 25 few few JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 125 26 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 125 27 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 28 MYH7-related MYH7-related NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 125 29 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 125 30 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 125 31 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 125 32 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 125 33 found find VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 34 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 35 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 125 36 cohort cohort NN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 37 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 125 38 Italian italian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 125 39 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 125 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 126 1 These these DT work_gtjtuksqxvhelgtzrkw2lkyr2a 126 2 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 126 3 had have VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 126 4 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 126 5 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 126 6 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 126 7 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 126 8 MYH7.133 MYH7.133 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 126 9 Both both DT work_gtjtuksqxvhelgtzrkw2lkyr2a 126 10 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 126 11 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 126 12 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 126 13 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 126 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 126 15 MYH2 MYH2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 126 16 can can MD work_gtjtuksqxvhelgtzrkw2lkyr2a 126 17 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 126 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 126 19 usually usually RB work_gtjtuksqxvhelgtzrkw2lkyr2a 126 20 mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 126 21 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 126 22 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 126 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 126 24 external external JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 126 25 oph- oph- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 126 26 thalmoplegia thalmoplegia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 126 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 127 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 127 2 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 3 cases case NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 127 4 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 5 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 6 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 7 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 8 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 127 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 127 10 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 127 11 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 127 12 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 13 ones one NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 127 14 usually usually RB work_gtjtuksqxvhelgtzrkw2lkyr2a 127 15 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 16 truncating truncate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 127 17 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 127 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 19 MYH2.7 MYH2.7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 20 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 21 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 22 splice splice NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 23 site site NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 24 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 25 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 127 26 skipping skipping NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 27 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 28 MYH2 MYH2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 29 exon exon NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 30 12 12 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 127 31 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 127 32 leading lead VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 127 33 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 34 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 127 35 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 36 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 127 37 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 38 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 39 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 40 19 19 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 127 41 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 127 42 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 127 43 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 44 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 45 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 127 46 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 47 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 48 where where WRB work_gtjtuksqxvhelgtzrkw2lkyr2a 127 49 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 127 50 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 127 51 had have VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 127 52 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 127 53 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 54 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 55 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 56 ophthalmople- ophthalmople- XX work_gtjtuksqxvhelgtzrkw2lkyr2a 127 57 gia.134 gia.134 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 127 58 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 127 59 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 60 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 61 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 62 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 63 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 64 MYH2 MYH2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 65 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 66 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 127 67 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 127 68 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 69 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 70 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 127 71 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 127 72 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 127 73 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 74 myop- myop- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 75 athy athy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 76 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 77 chronic chronic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 78 aspiration aspiration NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 79 pneumonia pneumonia NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 80 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 81 infancy.135 infancy.135 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 82 MYH3 MYH3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 83 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 127 84 MYH8 MYH8 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 85 encode encode VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 127 86 embryonic embryonic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 87 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 127 88 fetal fetal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 89 myosin myosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 90 heavy heavy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 127 91 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 127 92 chain chain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 127 93 isoforms isoform NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 127 94 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 128 1 Dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 2 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 3 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 128 4 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 5 MYH3 MYH3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 6 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 128 7 MYH8 MYH8 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 8 cause cause VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 9 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 10 arthrogryposis arthrogryposis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 11 syndromes syndrome VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 128 13 probably probably RB work_gtjtuksqxvhelgtzrkw2lkyr2a 128 14 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 128 16 result result NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 17 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 128 19 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 20 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 21 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 22 already already RB work_gtjtuksqxvhelgtzrkw2lkyr2a 128 23 during during IN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 24 fetal fetal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 25 development.7,136,137 development.7,136,137 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 26 Other other JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 27 Genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 128 28 Causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 128 29 Congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 30 Myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 128 31 Two two CD work_gtjtuksqxvhelgtzrkw2lkyr2a 128 32 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 128 33 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 128 34 CACNA1S CACNA1S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 35 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 128 36 SCN4A SCN4A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 37 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 128 38 previously previously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 128 39 known know VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 40 channelopathy channelopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 41 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 128 42 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 128 43 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 128 44 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 128 45 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 46 now now RB work_gtjtuksqxvhelgtzrkw2lkyr2a 128 47 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 48 implicate implicate JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 49 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 50 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 51 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 128 52 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 53 well.138 well.138 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 54 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 55 141 141 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 128 56 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 128 57 third third JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 58 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 59 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 128 60 ZAK ZAK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 61 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 128 62 has have VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 63 also also RB work_gtjtuksqxvhelgtzrkw2lkyr2a 128 64 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 128 65 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 66 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 67 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 68 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 128 69 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 70 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 128 71 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 72 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 128 73 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 128 74 gene142 gene142 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 75 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 128 76 Fig Fig NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 77 . . NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 128 78 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 128 79 Table table NN work_gtjtuksqxvhelgtzrkw2lkyr2a 128 80 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 128 81 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 129 1 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 129 2 dihydropyridine dihydropyridine NN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 3 receptor receptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 4 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 129 5 DHPR DHPR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 129 6 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 129 7 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 129 8 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 9 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 10 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 11 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 129 12 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 129 13 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 129 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 129 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 129 17 CACNA1S CACNA1S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 129 18 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 19 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 129 20 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 129 21 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 23 11 11 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 129 24 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 129 25 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 129 26 7 7 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 129 27 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 129 28 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 130 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 130 2 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 130 3 biopsies biopsy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 130 4 showed show VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 130 5 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 130 6 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 130 7 centralised centralise VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 130 8 nuclei nucleus NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 130 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 130 10 focal focal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 130 11 zones zone NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 130 12 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 130 13 sarcomeric sarcomeric JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 130 14 disorganisation disorganisation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 130 15 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 130 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 130 17 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 130 18 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 131 1 DHPR DHPR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 131 2 directly directly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 131 3 regulates regulate VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 131 4 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 131 5 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 131 6 calcium calcium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 131 7 release release NN work_gtjtuksqxvhelgtzrkw2lkyr2a 131 8 channel channel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 131 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 132 1 Both both CC work_gtjtuksqxvhelgtzrkw2lkyr2a 132 2 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 3 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 4 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 132 5 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 6 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 7 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 8 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 9 CACNA1S CACNA1S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 10 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 11 hypothesised hypothesise VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 12 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 132 13 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 132 14 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 15 decrease decrease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 17 overall overall JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 18 DHPR DHPR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 19 func- func- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 20 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 22 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 23 muscle.138 muscle.138 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 24 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 25 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 26 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 27 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 28 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 29 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 30 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 31 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 32 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 33 SCN4A scn4a JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 34 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 35 encoding encode VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 132 36 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 37 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 38 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 39 subunit subunit NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 40 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 41 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 42 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 43 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 44 voltage voltage NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 45 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 46 gated gate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 47 sodium sodium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 48 channel channel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 49 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 132 50 Nav1.4 Nav1.4 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 51 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 132 52 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 53 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 54 identified identify VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 55 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 56 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 57 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 58 8 8 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 59 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 60 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 61 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 62 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 63 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 64 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 65 variable variable JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 66 severity severity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 67 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 132 68 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 69 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 132 70 “ " `` work_gtjtuksqxvhelgtzrkw2lkyr2a 132 71 classical classical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 72 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 132 73 ” " '' work_gtjtuksqxvhelgtzrkw2lkyr2a 132 74 Histological histological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 75 features feature NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 76 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 77 unspecific unspecific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 78 ; ; : work_gtjtuksqxvhelgtzrkw2lkyr2a 132 79 abnormal abnormal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 80 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 81 size size NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 82 variability variability NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 83 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 132 84 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 85 some some DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 86 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 87 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 88 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 89 predominance predominance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 90 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 132 91 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 132 92 no no DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 93 pathognomic pathognomic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 94 findings.139 findings.139 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 95 � � NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 96 141 141 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 97 Partial partial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 98 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 99 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 100 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 101 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 102 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 103 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 104 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 105 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 106 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 107 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 108 milder milder NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 109 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 110 phenotype.140 phenotype.140 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 111 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 112 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 113 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 114 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 115 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 116 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 117 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 118 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 119 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 120 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 121 loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 122 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 123 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 124 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 125 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 126 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 127 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 128 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 132 129 mito- mito- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 130 gen gen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 131 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 132 132 activated activate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 133 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 134 triple triple JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 132 135 kinase kinase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 136 encoding encoding NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 137 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 138 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 132 139 ZAK ZAK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 132 140 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 132 141 was be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 142 recently recently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 132 143 reported report VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 144 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 145 six six CD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 146 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 147 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 132 148 three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 132 149 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 132 150 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 133 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 133 2 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 133 3 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 133 4 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 133 5 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 133 6 frameshift frameshift NN work_gtjtuksqxvhelgtzrkw2lkyr2a 133 7 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 133 8 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 133 9 muta- muta- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 133 10 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 133 11 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 133 12 ZAK ZAK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 133 13 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 134 1 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 134 2 parents parent NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 134 3 were be VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 134 4 consanguineous consanguineous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 134 5 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 134 6 all all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 134 7 fami- fami- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 134 8 lies lie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 134 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 135 1 All all DT work_gtjtuksqxvhelgtzrkw2lkyr2a 135 2 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 135 3 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 4 located locate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 5 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 6 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 135 7 kinase kinase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 8 domain domain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 9 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 10 ZAK.142 ZAK.142 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 11 Interestingly interestingly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 135 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 135 13 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 14 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 135 15 families family NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 135 16 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 135 17 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 135 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 135 20 SAM SAM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 21 domain domain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 22 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 23 ZAK ZAK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 24 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 25 been be VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 26 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 27 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 28 split split NN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 29 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 135 30 foot foot NN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 31 malformation malformation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 32 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 33 mesoaxial mesoaxial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 135 34 polydactyly.143 polydactyly.143 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 35 Conclusions conclusion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 135 36 Here here RB work_gtjtuksqxvhelgtzrkw2lkyr2a 135 37 we -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 38 have have VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 135 39 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 40 27 27 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 135 41 different different JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 135 42 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 135 43 implicated implicate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 44 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 45 various various JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 135 46 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 135 47 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 135 48 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 135 49 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 135 50 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 135 51 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 136 1 It -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 136 2 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 136 3 clear clear JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 136 4 that that IN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 5 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 136 6 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 7 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 8 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 136 9 will will MD work_gtjtuksqxvhelgtzrkw2lkyr2a 136 10 increase increase VB work_gtjtuksqxvhelgtzrkw2lkyr2a 136 11 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 12 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 13 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 136 14 accelerated accelerated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 136 15 use use NN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 17 next next JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 136 18 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 136 19 genera- genera- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 20 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 21 sequencing sequencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 136 22 methods method NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 136 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 137 1 Moreover moreover RB work_gtjtuksqxvhelgtzrkw2lkyr2a 137 2 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 137 3 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 137 4 CNVs cnv NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 137 5 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 137 6 rearrange- rearrange- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 137 7 ments ment NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 137 8 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 137 9 likely likely JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 137 10 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 137 11 be be VB work_gtjtuksqxvhelgtzrkw2lkyr2a 137 12 discovered discover VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 137 13 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 137 14 causative causative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 137 15 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 137 16 types type NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 137 17 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 137 18 many many JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 137 19 more more JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 137 20 disorders disorder NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 137 21 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 137 22 those those DT work_gtjtuksqxvhelgtzrkw2lkyr2a 137 23 currently currently RB work_gtjtuksqxvhelgtzrkw2lkyr2a 137 24 known know VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 137 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 138 1 References reference NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 138 2 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 138 3 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 139 1 Kiiski Kiiski NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 2 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 139 4 Laari Laari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 5 L L NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 139 7 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 8 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 139 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 139 13 Targeted target VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 14 array array VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 15 comparative comparative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 139 16 geno- geno- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 17 mic mic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 18 hybridization hybridization NN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 19 � � . work_gtjtuksqxvhelgtzrkw2lkyr2a 139 20 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 139 21 new new JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 139 22 diagnostic diagnostic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 139 23 tool tool NN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 24 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 25 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 139 26 detection detection NN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 27 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 28 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 139 29 copy copy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 30 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 31 variations variation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 139 32 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 139 33 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 34 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 139 35 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 139 36 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 139 37 genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 139 38 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 140 1 Neuro- Neuro- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 140 2 muscul muscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 140 3 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 140 4 23:56 23:56 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 140 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 140 6 65 65 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 140 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 140 8 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 140 9 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 140 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 141 1 Kiiski Kiiski NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 2 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 141 4 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 5 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 141 7 Manzur Manzur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 8 AY AY NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 141 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 141 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 141 14 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 141 15 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 141 16 affecting affect VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 141 17 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 141 19 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 141 20 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 141 21 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 141 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 142 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 142 2 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 142 3 Dis Dis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 142 4 2:433- 2:433- CD work_gtjtuksqxvhelgtzrkw2lkyr2a 142 5 438 438 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 142 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 142 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 142 8 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 142 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 143 1 Savarese Savarese NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 143 4 Musumeci Musumeci NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 5 O O NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 143 7 Giugliano Giugliano NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 8 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 143 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 143 13 Novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 143 14 findings finding NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 143 15 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 143 16 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 143 17 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 18 suggest suggest VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 143 19 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 143 20 higher high JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 143 21 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 143 22 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 143 23 female female JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 143 24 symptomatic symptomatic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 143 25 carriers carrier NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 143 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 144 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 144 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 144 3 26:292 26:292 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 144 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 144 5 299 299 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 144 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 144 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 144 8 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 144 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 145 1 Nowak nowak JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 145 2 KJ KJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 145 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 145 4 Ravenscroft Ravenscroft NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 145 5 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 145 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 145 7 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 145 8 NG ng NN work_gtjtuksqxvhelgtzrkw2lkyr2a 145 9 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 145 10 Skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 145 11 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 145 12 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 145 13 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 145 14 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 145 15 dis- dis- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 145 16 eases ease NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 145 17 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 145 18 actinopathies actinopathie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 145 19 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 145 20 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 145 21 Pathology pathology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 145 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 145 23 mechanisms mechanism NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 145 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 146 1 Acta Acta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 146 2 Neuropathol Neuropathol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 146 3 125:19 125:19 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 146 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 146 5 32 32 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 146 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 146 7 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 146 8 5 5 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 146 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 147 1 Marttila Marttila NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 147 4 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 5 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 147 7 Marston Marston NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 147 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 147 13 Mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 14 update update NN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 147 16 geno- geno- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 147 17 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 18 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 147 19 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 20 correlations correlation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 147 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 22 novel novel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 23 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 147 24 previously previously RB work_gtjtuksqxvhelgtzrkw2lkyr2a 147 25 described describe VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 26 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 147 27 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 147 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 147 29 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 30 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 147 31 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 147 32 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 147 33 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 147 34 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 147 35 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 148 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 148 2 Mutat mutat JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 148 3 35:779 35:779 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 148 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 148 5 790 790 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 148 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 148 7 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 148 8 6 6 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 148 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 149 1 Hwang Hwang NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 2 JH JH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 149 4 Zorzato Zorzato NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 5 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 149 7 Clarke Clarke NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 8 NF NF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 149 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 149 13 Mapping mapping NN work_gtjtuksqxvhelgtzrkw2lkyr2a 149 14 domains domain NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 149 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 149 16 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 149 17 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 149 18 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 149 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 149 20 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 149 21 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 149 22 ryanodine ryanodine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 23 receptor receptor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 149 24 channel channel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 149 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 150 1 Trends Trends NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 150 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 150 3 Med Med NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 150 4 18:644 18:644 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 150 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 150 6 657 657 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 150 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 150 8 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 150 9 7 7 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 150 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 151 1 Tajsharghi Tajsharghi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 151 2 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 151 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 151 4 Oldfors Oldfors NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 151 5 A a NN work_gtjtuksqxvhelgtzrkw2lkyr2a 151 6 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 151 7 Myosinopathies myosinopathie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 151 8 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 151 9 Pathology pathology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 151 10 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 151 11 mechanisms mechanism NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 151 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 152 1 Acta Acta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 152 2 Neuropathol Neuropathol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 152 3 125:3 125:3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 152 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 152 5 18 18 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 152 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 152 7 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 152 8 8 8 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 152 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 153 1 Savarese Savarese NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 153 4 Sarparanta Sarparanta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 5 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 153 7 Vihola Vihola NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 8 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 153 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 153 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 153 13 Increasing increase VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 153 14 role role NN work_gtjtuksqxvhelgtzrkw2lkyr2a 153 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 153 16 titin titin IN work_gtjtuksqxvhelgtzrkw2lkyr2a 153 17 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 153 18 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 153 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 153 20 neuromuscular neuromuscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 153 21 disorders disorder NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 153 22 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 154 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 154 2 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 154 3 Dis Dis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 154 4 3:293 3:293 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 154 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 154 6 308 308 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 154 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 154 8 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 154 9 9 9 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 154 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 155 1 Zhou Zhou NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 2 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 155 4 Brockington Brockington NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 155 7 Jungbluth Jungbluth NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 8 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 155 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 155 13 Epigenetic Epigenetic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 14 allele allele NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 15 silencing silence VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 155 16 unveils unveil NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 155 17 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 155 18 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 155 19 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 155 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 155 21 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 155 22 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 155 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 156 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 156 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 156 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 156 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 156 5 79:859 79:859 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 156 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 156 7 868 868 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 156 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 156 9 2006 2006 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 156 10 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 156 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 157 1 Rokach Rokach NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 2 O O NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 157 4 Sekulic Sekulic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 157 6 Jablanovic Jablanovic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 7 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 157 9 Voermans Voermans NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 10 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 157 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 157 15 Epigenetic epigenetic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 157 16 changes change NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 157 17 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 157 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 157 19 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 157 20 trigger trigger NN work_gtjtuksqxvhelgtzrkw2lkyr2a 157 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 157 22 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 157 23 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 157 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 157 25 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 157 26 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 157 27 thies thie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 157 28 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 158 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 158 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 158 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 158 4 24:4636 24:4636 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 158 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 158 6 4647 4647 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 158 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 158 8 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 158 9 11 11 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 158 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 159 1 Sewry Sewry NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 159 2 CA CA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 159 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 159 4 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 159 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 159 6 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 159 7 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 159 8 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 159 9 Myopathology myopathology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 159 10 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 159 11 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 159 12 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 159 13 thies thie NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 159 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 160 1 Neuropathol Neuropathol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 160 2 Appl Appl NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 160 3 Neurobiol Neurobiol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 160 4 43:5 43:5 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 160 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 160 6 23 23 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 160 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 160 8 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 160 9 12 12 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 160 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 161 1 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 2 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 161 4 Kiiski Kiiski NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 5 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 161 7 Sandaradura Sandaradura NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 8 SA SA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 161 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 161 13 Mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 161 14 update update NN work_gtjtuksqxvhelgtzrkw2lkyr2a 161 15 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 161 16 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 161 17 spectra spectra NN work_gtjtuksqxvhelgtzrkw2lkyr2a 161 18 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 161 19 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 161 20 variants variant NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 161 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 161 22 associated associated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 161 23 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 161 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 162 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 162 2 Mutat mutat JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 162 3 35:1418 35:1418 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 162 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 162 5 1426 1426 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 162 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 162 7 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 162 8 13 13 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 162 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 163 1 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 2 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 163 4 Ceuterick Ceuterick NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 163 6 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 7 Groote Groote NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 163 10 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 11 Jonghe Jonghe NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 12 P P NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 163 14 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 15 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 16 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 163 17 Cap Cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 18 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 163 19 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 163 20 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 163 21 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 163 22 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 163 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 163 24 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 163 25 beta beta JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 163 26 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 163 27 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 163 28 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 163 29 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 163 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 164 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 164 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 164 3 17:433 17:433 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 164 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 164 5 442 442 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 164 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 164 7 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 164 8 14 14 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 164 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 165 1 Tajsharghi Tajsharghi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 2 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 165 4 Ohlsson Ohlsson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 165 7 Lindberg Lindberg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 165 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 165 13 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 15 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 16 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 165 17 rods rod NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 165 18 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 165 19 cap cap NN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 20 structures structure NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 165 21 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 22 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 23 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 165 24 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 25 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 26 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 165 27 beta- beta- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 28 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 29 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 165 30 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 165 31 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 165 32 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 165 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 166 1 Arch Arch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 166 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 166 3 64:1334 64:1334 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 166 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 166 5 1338 1338 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 166 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 166 7 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 166 8 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 166 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 167 1 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 167 2 NG NG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 167 4 Wilton Wilton NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 5 SD SD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 167 7 Akkari Akkari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 8 PA PA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 167 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 167 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 167 14 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 167 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 167 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 167 17 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 167 18 tropo- tropo- POS work_gtjtuksqxvhelgtzrkw2lkyr2a 167 19 myosin myosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 20 gene gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 21 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 22 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 167 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 167 24 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 167 25 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 167 26 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 27 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 28 NEM1 NEM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 167 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 168 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 168 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 168 3 249:75 249:75 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 168 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 168 5 79 79 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 168 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 168 7 1995 1995 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 168 8 16 16 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 168 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 169 1 Nowak nowak JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 169 2 KJ KJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 169 4 Wattanasirichaigoon Wattanasirichaigoon NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 5 D D NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 169 7 Goebel Goebel NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 8 HH HH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 169 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 169 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 169 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 169 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 169 16 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 169 17 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 169 18 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 169 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 169 20 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 169 21 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 169 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 169 23 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 169 24 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 169 25 actin actin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 26 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 27 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 169 28 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 29 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 169 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 170 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 170 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 170 3 23:208 23:208 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 170 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 170 5 212 212 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 170 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 170 7 1999 1999 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 170 8 17 17 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 170 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 171 1 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 2 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 171 4 Hilpela Hilpela NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 5 P P NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 171 7 Donner Donner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 8 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 171 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 171 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 171 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 171 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 171 16 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 17 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 171 18 asso- asso- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 171 19 ciated ciate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 171 20 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 171 21 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 171 22 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 171 23 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 24 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 171 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 172 1 Proc Proc NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 172 2 Natl Natl NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 172 3 Acad Acad NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 172 4 Sci Sci NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 172 5 U U NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 172 6 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 172 7 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 172 8 96:2305 96:2305 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 172 9 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 172 10 2310 2310 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 172 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 172 12 1999 1999 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 172 13 18 18 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 172 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 173 1 Johnston Johnston NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 2 JJ JJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 173 4 Kelley Kelley NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 5 RI RI NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 173 7 Crawford Crawford NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 8 TO TO NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 173 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 173 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 173 14 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 173 15 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 173 16 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 173 17 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 173 18 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 173 19 Amish Amish NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 20 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 173 21 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 173 22 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 173 23 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 173 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 173 25 troponin troponin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 26 T1 T1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 173 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 174 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 174 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 174 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 174 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 174 5 67:814 67:814 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 174 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 174 7 821 821 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 174 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 174 9 2000 2000 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 174 10 19 19 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 174 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 175 1 Donner Donner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 2 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 175 4 Ollikainen Ollikainen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 175 7 Ridanpaa Ridanpaa NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 175 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 175 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 175 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 175 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 175 16 beta- beta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 175 17 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 175 18 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 175 19 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 20 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 175 21 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 175 22 � � . work_gtjtuksqxvhelgtzrkw2lkyr2a 175 23 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 175 24 rare rare JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 175 25 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 175 26 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 175 27 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 28 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 175 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 176 1 Neu- Neu- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 176 2 romuscul romuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 176 3 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 176 4 12:151 12:151 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 176 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 176 6 158 158 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 176 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 176 8 2002 2002 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 176 9 20 20 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 176 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 177 1 Agrawal Agrawal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 2 PB PB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 177 4 Greenleaf Greenleaf NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 5 RS RS NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 177 7 Tomczak Tomczak NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 8 KK KK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 177 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 177 13 Nemaline Nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 15 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 16 minicores minicore NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 177 17 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 18 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 19 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 21 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 177 22 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 23 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 24 encoding encode VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 177 25 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 177 26 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 177 27 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 28 actin actin RB work_gtjtuksqxvhelgtzrkw2lkyr2a 177 29 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 177 30 binding bind VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 177 31 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 177 32 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 177 33 cofilin-2 cofilin-2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 177 34 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 178 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 178 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 178 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 178 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 178 5 80:162 80:162 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 178 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 178 7 167 167 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 178 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 178 9 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 178 10 21 21 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 178 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 179 1 Sambuughin Sambuughin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 179 4 Yau Yau NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 5 KS KS NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 179 7 Olive Olive NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 179 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 179 13 Dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 179 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 179 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 179 16 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 179 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 179 19 member member NN work_gtjtuksqxvhelgtzrkw2lkyr2a 179 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 179 21 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 179 22 BTB BTB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 23 / / SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 179 24 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 25 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 179 26 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 179 27 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 179 28 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 29 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 30 thy thy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 179 31 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 179 32 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 179 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 180 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 180 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 180 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 180 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 180 5 87:842 87:842 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 180 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 180 7 847 847 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 180 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 180 9 2010 2010 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 180 10 22 22 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 180 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 181 1 Ravenscroft Ravenscroft NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 2 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 181 4 Miyatake Miyatake NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 181 7 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 8 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 181 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 181 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 181 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 181 15 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 16 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 17 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 181 18 frequent frequent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 181 19 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 181 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 181 21 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 181 22 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 181 23 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 181 24 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 181 25 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 181 26 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 181 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 182 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 182 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 182 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 182 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 182 5 93:6 93:6 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 182 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 182 7 18 18 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 182 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 182 9 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 182 10 23 23 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 182 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 183 1 Gupta Gupta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 2 VA VA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 183 4 Ravenscroft Ravenscroft NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 5 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 183 7 Shaheen Shaheen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 8 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 183 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 183 13 Identification Identification NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 15 KLHL41 klhl41 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 16 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 183 17 implicates implicate VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 18 BTB BTB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 183 20 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 21 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 183 22 mediated mediate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 23 ubiquitination ubiquitination NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 24 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 25 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 183 26 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 27 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 28 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 29 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 30 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0001 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 31 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0002 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0002 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 32 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0002 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0002 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 33 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0002 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0002 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 34 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0003 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0003 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 35 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0003 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0003 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 36 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0003 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0003 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 37 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0004 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0004 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 38 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0004 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0004 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 39 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0004 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0004 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 40 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 41 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 42 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 43 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0005 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 44 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0006 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0006 VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 45 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0006 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0006 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 46 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0006 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0006 VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 47 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0007 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0007 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 48 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0007 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0007 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 49 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0008 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0008 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 50 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0008 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0008 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 51 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0009 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0009 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 52 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0009 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0009 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 53 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0009 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0009 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 54 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0010 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0010 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 55 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0010 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0010 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 56 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0010 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0010 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 57 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0011 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0011 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 58 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0011 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0011 PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 59 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0012 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0012 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 60 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0012 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0012 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 61 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0012 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0012 VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 62 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0013 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0013 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 63 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0013 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0013 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 64 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0013 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0013 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 65 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0014 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0014 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 66 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0014 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0014 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 67 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0014 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0014 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 183 68 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0015 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0015 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 69 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0015 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0015 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 70 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0015 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0015 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 71 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0016 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0016 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 72 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0016 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0016 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 73 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0016 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0016 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 74 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0017 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0017 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 75 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0017 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0017 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 76 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0017 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0017 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 77 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0018 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0018 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 78 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0018 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0018 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 79 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0018 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0018 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 80 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0019 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0019 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 81 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0019 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0019 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 82 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0019 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0019 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 83 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0019 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0019 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 84 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0020 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0020 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 85 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0020 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0020 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 86 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0020 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0020 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 87 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0020 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0020 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 88 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0021 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0021 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 89 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0021 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0021 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 90 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0021 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0021 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 91 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0022 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0022 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 92 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0022 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0022 VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 183 93 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0022 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0022 VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 94 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 95 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 96 20 20 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 183 97 K. K. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 98 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 99 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 183 100 C. C. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 101 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 102 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 183 103 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 104 alternate alternate JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 105 pathway pathway NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 106 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 107 myofibrillar myofibrillar JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 183 108 disruption disruption NN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 109 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 183 110 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 111 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 183 112 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 184 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 184 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 184 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 184 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 184 5 93:1108 93:1108 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 184 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 184 7 1117 1117 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 184 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 184 9 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 184 10 24 24 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 184 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 185 1 Yuen Yuen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 185 4 Sandaradura Sandaradura NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 5 SA SA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 185 7 Dowling Dowling NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 8 JJ JJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 185 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 185 13 Leiomodin-3 Leiomodin-3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 14 dysfunction dysfunction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 185 15 results result NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 185 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 185 17 thin thin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 185 18 filament filament NN work_gtjtuksqxvhelgtzrkw2lkyr2a 185 19 disorganization disorganization NN work_gtjtuksqxvhelgtzrkw2lkyr2a 185 20 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 185 21 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 185 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 186 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 186 2 Clin Clin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 186 3 Invest Invest NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 186 4 124:4693 124:4693 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 186 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 186 6 4708 4708 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 186 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 186 8 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 186 9 25 25 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 186 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 187 1 Miyatake Miyatake NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 2 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 187 4 Mitsuhashi Mitsuhashi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 187 7 Hayashi Hayashi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 8 YK YK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 187 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 187 13 Biallelic biallelic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 187 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 187 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 187 16 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 17 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 187 18 encoding encode VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 187 19 myopalladin myopalladin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 20 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 187 21 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 22 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 187 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 187 24 childhood childhood NN work_gtjtuksqxvhelgtzrkw2lkyr2a 187 25 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 187 26 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 187 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 187 28 slowly slowly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 187 29 pro- pro- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 187 30 gressive gressive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 187 31 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 32 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 187 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 188 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 188 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 188 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 188 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 188 5 100:169 100:169 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 188 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 188 7 178 178 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 188 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 188 9 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 188 10 26 26 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 188 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 189 1 Kiiski Kiiski NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 2 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 189 4 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 5 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 189 7 Loytynoja Loytynoja NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 8 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 189 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 189 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 189 14 recurrent recurrent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 189 15 copy copy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 16 number number NN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 17 variation variation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 18 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 189 20 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 21 triplicate triplicate NN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 22 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 23 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 189 24 Only only RB work_gtjtuksqxvhelgtzrkw2lkyr2a 189 25 revealed reveal VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 26 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 27 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 189 28 targeted target VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 189 29 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 30 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 31 CGH CGH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 32 array array NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 189 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 190 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 190 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 190 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 190 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 190 5 24:574 24:574 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 190 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 190 7 580 580 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 190 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 190 9 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 190 10 27 27 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 190 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 191 1 Marttila Marttila NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 191 4 Hanif Hanif NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 191 7 Lemola Lemola NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 8 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 191 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 191 13 Nebulin Nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 14 interactions interaction NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 191 15 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 191 16 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 191 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 191 18 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 191 19 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 191 20 altered alter VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 191 21 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 191 22 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 191 23 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 191 24 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 191 25 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 191 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 192 1 Skelet Skelet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 192 2 Mus- Mus- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 192 3 cle cle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 192 4 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 192 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 192 6 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 192 7 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 193 1 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 193 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 193 3 5040 5040 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 193 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 193 5 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 193 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 193 7 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 193 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 193 9 eCollection ecollection NN work_gtjtuksqxvhelgtzrkw2lkyr2a 193 10 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 193 11 28 28 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 193 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 194 1 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 194 3 Petterson petterson NN work_gtjtuksqxvhelgtzrkw2lkyr2a 194 4 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 194 6 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 7 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 194 9 Kalimo Kalimo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 10 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 194 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 194 15 Distal Distal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 16 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 17 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 194 18 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 194 19 homozygous homozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 194 20 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 194 21 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 194 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 194 23 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 194 24 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 194 25 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 194 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 195 1 Brain brain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 195 2 130:1465 130:1465 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 195 3 - - : work_gtjtuksqxvhelgtzrkw2lkyr2a 195 4 1476 1476 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 195 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 195 6 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 195 7 29 29 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 195 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 196 1 Romero Romero NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 2 NB NB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 196 4 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 5 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 196 7 Quijano Quijano NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 196 9 Roy Roy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 10 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 196 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 196 15 Core Core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 16 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 196 17 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 196 18 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 19 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 196 20 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 196 21 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 196 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 196 23 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 196 24 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 196 25 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 196 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 197 1 Neurology Neurology NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 197 2 73:1159 73:1159 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 197 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 197 4 1161 1161 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 197 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 197 6 2009 2009 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 197 7 30 30 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 197 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 198 1 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 2 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 198 4 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 5 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 198 7 Herczegfalvi Herczegfalvi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 8 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 198 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 198 13 Nemaline Nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 15 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 198 16 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 198 17 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 198 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 198 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 198 20 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 21 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 198 22 may may MD work_gtjtuksqxvhelgtzrkw2lkyr2a 198 23 present present VB work_gtjtuksqxvhelgtzrkw2lkyr2a 198 24 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 198 25 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 198 26 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 198 27 myop- myop- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 198 28 athy athy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 198 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 199 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 199 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 199 3 21:556 21:556 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 199 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 199 5 562 562 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 199 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 199 7 2011 2011 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 199 8 31 31 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 199 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 200 1 Abdalla Abdalla NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 2 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 200 4 Ravenscroft Ravenscroft NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 5 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 200 7 Zayed Zayed NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 8 L L NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 200 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 200 13 Lethal lethal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 200 14 multiple multiple JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 200 15 pterygium pterygium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 16 syndrome syndrome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 17 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 200 18 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 200 19 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 200 20 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 21 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 22 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 23 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 200 24 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 200 25 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 26 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 27 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 200 28 nebulin nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 200 29 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 200 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 201 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 201 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 201 3 27:537 27:537 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 201 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 201 5 541 541 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 201 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 201 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 201 8 32 32 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 201 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 202 1 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 202 2 NG NG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 202 4 Dye Dye NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 5 DE DE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 202 7 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 202 9 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 10 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 202 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 202 15 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 202 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 202 17 poly- poly- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 202 18 morphisms morphism NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 202 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 202 20 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 202 21 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 202 22 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 202 23 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 202 24 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 202 25 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 202 26 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 202 27 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 202 28 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 202 29 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 202 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 203 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 203 2 Mutat Mutat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 203 3 30:1267 30:1267 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 203 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 203 5 1277 1277 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 203 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 203 7 2009 2009 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 203 8 33 33 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 203 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 204 1 Witting Witting NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 204 4 Werlauff Werlauff NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 5 U U NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 204 7 Duno Duno NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 204 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 204 13 Prevalence Prevalence NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 14 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 204 15 phenotypes phenotype NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 204 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 204 17 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 204 18 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 204 19 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 204 20 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 204 21 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 204 22 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 204 23 actin actin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 204 24 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 204 25 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 204 26 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 204 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 205 1 Muscle Muscle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 205 2 Nerve Nerve NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 205 3 53:388 53:388 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 205 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 205 5 393 393 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 205 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 205 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 205 8 34 34 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 205 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 206 1 Seidahmed seidahme VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 206 2 MZ MZ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 206 4 Salih Salih NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 5 MA MA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 206 7 Abdelbasit Abdelbasit NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 8 OB OB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 206 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 206 13 Gonadal Gonadal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 14 mosaicism mosaicism NN work_gtjtuksqxvhelgtzrkw2lkyr2a 206 15 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 206 16 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 17 gene gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 18 masquerading masquerade VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 206 19 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 206 20 autosomal autosomal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 21 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 206 22 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 23 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 24 thy thy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 206 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 207 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 207 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 207 3 Med Med NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 207 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 207 5 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 207 6 170:2219 170:2219 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 207 7 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 207 8 2221 2221 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 207 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 207 10 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 207 11 35 35 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 207 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 208 1 Sparrow sparrow VB work_gtjtuksqxvhelgtzrkw2lkyr2a 208 2 JC JC NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 208 4 Nowak Nowak NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 5 KJ KJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 208 7 Durling Durling NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 8 HJ HJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 208 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 208 13 Muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 14 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 15 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 16 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 17 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 208 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 19 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 208 20 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 208 21 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 22 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 23 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 208 24 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 25 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 208 26 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 208 27 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 208 28 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 208 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 209 1 Neuro- Neuro- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 209 2 muscul muscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 209 3 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 209 4 13:519 13:519 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 209 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 209 6 531 531 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 209 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 209 8 2003 2003 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 209 9 36 36 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 209 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 210 1 Hung Hung NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 2 RM RM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 210 4 Yoon Yoon NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 5 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 210 7 Hawkins Hawkins NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 8 CE CE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 210 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 210 13 Cap Cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 210 15 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 16 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 17 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 210 18 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 20 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 210 21 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 210 22 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 23 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 210 24 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 25 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 26 ACTA1 acta1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 210 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 211 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 211 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 211 3 20:238 20:238 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 211 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 211 5 240 240 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 211 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 211 7 2010 2010 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 211 8 37 37 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 211 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 212 1 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 212 2 NG NG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 212 4 Clarke Clarke NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 5 NF NF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 212 7 Dye Dye NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 8 DE DE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 212 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 212 13 Actin Actin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 212 15 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 212 16 one one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 212 17 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 212 18 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 212 19 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 212 20 fibre fibre NN work_gtjtuksqxvhelgtzrkw2lkyr2a 212 21 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 212 22 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 212 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 213 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 213 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 213 3 56:689 56:689 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 213 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 213 5 694 694 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 213 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 213 7 2004 2004 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 213 8 38 38 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 213 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 214 1 Kaindl Kaindl NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 2 AM am VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 214 4 Ruschendorf Ruschendorf NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 5 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 214 7 Krause Krause NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 214 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 214 13 Missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 214 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 214 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 214 16 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 17 cause cause VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 18 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 214 19 congenital congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 20 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 214 21 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 214 22 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 214 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 215 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 215 2 Med Med NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 215 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 215 4 41:842 41:842 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 215 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 215 6 848 848 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 215 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 215 8 2004 2004 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 215 9 39 39 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 215 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 216 1 Goebel Goebel NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 216 2 HH HH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 216 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 216 4 Warlo Warlo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 216 5 I -PRON- PRP work_gtjtuksqxvhelgtzrkw2lkyr2a 216 6 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 216 7 Nemaline Nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 216 8 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 216 9 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 216 10 intranuclear intranuclear JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 216 11 rods rod NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 216 12 � � . work_gtjtuksqxvhelgtzrkw2lkyr2a 216 13 Intranuclear Intranuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 216 14 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 216 15 myopathy myopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 216 16 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 217 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 217 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 217 3 7:13 7:13 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 217 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 217 5 19 19 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 217 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 217 7 1997 1997 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 217 8 40 40 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 217 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 218 1 Domazetovska Domazetovska NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 2 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 218 4 Ilkovski Ilkovski NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 5 B B NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 218 7 Kumar Kumar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 8 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 218 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 218 13 Intranuclear Intranuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 218 14 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 218 15 myopa- myopa- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 218 16 thy thy PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 218 17 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 218 18 Molecular molecular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 218 19 pathogenesis pathogenesis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 218 20 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 218 21 mechanisms mechanism NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 218 22 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 218 23 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 218 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 219 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 219 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 219 3 62:597 62:597 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 219 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 219 5 608 608 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 219 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 219 7 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 219 8 41 41 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 219 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 220 1 Sewry Sewry NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 2 CA CA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 220 4 Holton Holton NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 5 JL JL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 220 7 Dick Dick NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 8 DJ DJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 220 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 220 13 Zebra Zebra NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 14 body body NN work_gtjtuksqxvhelgtzrkw2lkyr2a 220 15 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 16 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 220 17 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 220 18 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 220 19 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 220 20 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 220 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 220 22 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 220 23 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 220 24 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 220 25 actin actin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 26 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 220 27 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 220 28 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 220 29 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 220 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 221 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 221 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 221 3 25:388 25:388 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 221 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 221 5 391 391 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 221 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 221 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 221 8 42 42 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 221 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 222 1 Zukosky Zukosky NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 2 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 222 4 Meilleur Meilleur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 5 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 222 7 Traynor Traynor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 8 BJ BJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 222 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 222 13 Association Association NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 15 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 222 16 novel novel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 17 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 222 18 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 19 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 20 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 222 21 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 222 22 progressive progressive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 222 23 scapuloperoneal scapuloperoneal NN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 24 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 25 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 26 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 222 27 extended extended JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 222 28 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 222 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 223 1 JAMA JAMA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 223 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 223 3 72:689 72:689 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 223 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 223 5 698 698 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 223 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 223 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 223 8 43 43 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 223 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 224 1 Liewluck Liewluck NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 2 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 224 4 Sorenson Sorenson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 5 EJ EJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 224 7 Walkiewicz Walkiewicz NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 8 MA MA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 224 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 224 13 Autosomal Autosomal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 14 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 224 15 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 224 16 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 224 17 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 224 18 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 224 19 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 224 20 novel novel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 224 21 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 224 22 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 224 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 225 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 225 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 225 3 27:742 27:742 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 225 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 225 5 746 746 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 225 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 225 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 225 8 44 44 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 225 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 226 1 Marttila Marttila NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 226 4 Lemola Lemola NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 5 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 226 7 Wallefeld Wallefeld NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 8 W W NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 226 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 226 13 Abnormal abnormal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 226 14 actin actin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 15 binding binding NN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 17 aberrant aberrant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 226 18 beta beta NN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 226 20 tropomyosins tropomyosin NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 226 21 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 226 22 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 226 23 molecular molecular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 226 24 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 25 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 26 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 27 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 226 29 TPM2-related TPM2-related NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 30 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 31 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 226 32 cap cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 33 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 226 34 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 227 1 Biochem Biochem NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 227 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 227 3 442:231- 442:231- CD work_gtjtuksqxvhelgtzrkw2lkyr2a 227 4 239 239 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 227 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 227 6 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 227 7 45 45 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 227 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 228 1 Monnier Monnier NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 228 4 Lunardi Lunardi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 5 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 228 7 Marty Marty NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 8 I I NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 228 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 228 13 Absence absence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 15 beta beta NN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 16 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 228 17 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 18 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 228 19 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 228 20 new new JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 228 21 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 22 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 23 Escobar Escobar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 24 syndrome syndrome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 25 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 26 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 228 27 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 28 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 228 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 229 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 229 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 229 3 19:118 19:118 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 229 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 229 5 123 123 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 229 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 229 7 2009 2009 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 229 8 46 46 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 229 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 230 1 Tan Tan NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 2 P P NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 230 4 Briner Briner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 5 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 230 7 Boltshauser Boltshauser NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 8 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 230 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 230 13 Homozygosity homozygosity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 14 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 15 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 230 16 nonsense nonsense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 17 muta- muta- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 18 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 20 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 230 21 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 22 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 230 23 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 24 slow slow JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 230 25 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 26 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 27 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 28 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 230 29 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 30 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 230 31 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 230 32 infantile infantile NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 33 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 34 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 230 35 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 231 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 231 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 231 3 9:573 9:573 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 231 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 231 5 579 579 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 231 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 231 7 1999 1999 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 231 8 47 47 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 231 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 232 1 Wattanasirichaigoon Wattanasirichaigoon NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 2 D D NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 232 4 Swoboda Swoboda NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 5 KJ KJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 232 7 Takada Takada NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 8 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 232 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 232 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 232 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 232 16 slow slow JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 232 17 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 18 alpha alpha NN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 232 20 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 21 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 22 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 232 23 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 24 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 232 25 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 26 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 232 27 rare rare JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 232 28 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 29 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 30 nema- nema- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 232 31 line line NN work_gtjtuksqxvhelgtzrkw2lkyr2a 232 32 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 232 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 233 1 Neurology neurology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 233 2 59:613 59:613 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 233 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 233 4 617 617 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 233 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 233 6 2002 2002 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 233 7 48 48 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 233 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 234 1 Lawlor lawlor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 2 MW MW NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 234 4 Dechene Dechene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 5 ET ET NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 234 7 Roumm Roumm NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 8 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 234 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 234 13 Mutations Mutations NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 15 tropomyosin tropomyosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 16 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 234 17 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 234 18 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 19 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 234 20 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 234 21 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 234 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 234 23 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 24 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 25 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 26 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 234 27 myofiber myofiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 28 hypotrophy hypotrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 30 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 234 31 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 32 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 33 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 234 34 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 235 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 235 2 Mutat Mutat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 235 3 31:176 31:176 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 235 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 235 5 183 183 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 235 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 235 7 2010 2010 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 235 8 49 49 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 235 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 236 1 Lehtokari Lehtokari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 2 VL VL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 236 4 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 5 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 236 7 Donner Donner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 8 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 236 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 236 13 Identification identification NN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 15 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 236 16 founder founder NN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 17 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 19 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 236 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 21 nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 236 22 myopathy myopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 236 23 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 236 24 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 25 Turkish turkish JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 236 26 origin origin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 236 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 237 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 5 16:1055 16:1055 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 237 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 237 7 1061 1061 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 237 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 237 9 2008 2008 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 237 10 50 50 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 237 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 237 12 van van NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 13 der der NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 14 Pol Pol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 15 WL WL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 237 17 Leijenaar Leijenaar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 18 JF JF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 237 20 Spliet Spliet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 21 WG WG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 22 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 237 23 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 24 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 25 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 237 26 Nemaline Nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 27 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 237 28 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 237 29 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 237 30 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 237 31 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 237 32 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 237 33 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 237 34 Dutch dutch JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 237 35 pedigree pedigree NN work_gtjtuksqxvhelgtzrkw2lkyr2a 237 36 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 238 1 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 238 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 238 3 Genomic Genomic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 238 4 Med Med NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 238 5 2:134 2:134 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 238 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 238 7 137 137 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 238 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 238 9 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 238 10 51 51 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 238 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 239 1 Marra Marra NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 2 JD JD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 239 4 Engelstad Engelstad NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 5 KE KE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 239 7 Ankala Ankala NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 8 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 239 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 239 13 Identification identification NN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 15 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 239 16 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 239 17 nema- nema- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 239 18 line line NN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 19 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 20 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 239 21 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 239 22 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 24 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 239 25 troponin troponin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 26 T1 T1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 27 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 239 28 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 29 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 239 30 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 31 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 239 32 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 239 33 case case NN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 34 outside outside RB work_gtjtuksqxvhelgtzrkw2lkyr2a 239 35 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 36 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 239 37 old old JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 239 38 order order NN work_gtjtuksqxvhelgtzrkw2lkyr2a 239 39 Amish Amish NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 239 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 240 1 Muscle Muscle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 240 2 Nerve Nerve NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 240 3 51:767 51:767 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 240 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 240 5 772 772 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 240 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 240 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 240 8 52 52 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 240 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 241 1 Abdulhaq Abdulhaq NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 2 UN UN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 241 4 Daana Daana NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 241 7 Dor Dor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 8 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 241 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 241 13 Nemaline nemaline JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 241 14 body body NN work_gtjtuksqxvhelgtzrkw2lkyr2a 241 15 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 241 16 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 241 17 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 241 18 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 241 19 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 241 20 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 241 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 241 22 troponin troponin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 23 T1 T1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 241 24 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 241 25 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 241 26 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 241 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 242 1 Muscle Muscle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 242 2 Nerve Nerve NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 242 3 53:564 53:564 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 242 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 242 5 569 569 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 242 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 242 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 242 8 53 53 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 242 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 243 1 Ockeloen Ockeloen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 2 CW CW NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 243 4 Gilhuis Gilhuis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 5 HJ HJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 243 7 Pfundt Pfundt NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 8 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 243 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 243 13 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 15 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 243 16 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 243 17 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 243 18 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 243 19 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 243 20 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 243 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 243 22 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 243 23 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 243 24 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 243 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 244 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 244 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 244 3 22:632 22:632 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 244 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 244 5 639 639 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 244 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 244 7 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 244 8 54 54 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 244 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 245 1 Ong Ong NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 2 RW RW NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 245 4 AlSaman AlSaman NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 5 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 245 7 Selcen Selcen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 8 D D NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 245 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 245 13 Novel Novel NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 14 cofilin-2 cofilin-2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 15 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 245 16 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 17 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 245 18 four four CD work_gtjtuksqxvhelgtzrkw2lkyr2a 245 19 base base NN work_gtjtuksqxvhelgtzrkw2lkyr2a 245 20 pair pair NN work_gtjtuksqxvhelgtzrkw2lkyr2a 245 21 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 245 22 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 245 23 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 24 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 245 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 246 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 246 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 246 3 Neurosurg Neurosurg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 246 4 Psychia- Psychia- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 246 5 try try VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 246 6 85:1058 85:1058 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 246 7 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 246 8 1060 1060 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 246 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 246 10 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 246 11 55 55 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 246 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 247 1 Abbott Abbott NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 247 4 Jain Jain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 247 7 Pferdehirt Pferdehirt NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 8 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 247 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 247 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 247 13 Neonatal neonatal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 247 14 fractures fracture NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 247 15 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 247 16 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 247 17 presenting present VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 247 18 feature feature NN work_gtjtuksqxvhelgtzrkw2lkyr2a 247 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 247 20 LMOD3-associated lmod3-associated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 247 21 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 247 22 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 247 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 248 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 248 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 248 3 Med Med NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 248 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 248 5 173A:2789 173a:2789 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 248 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 248 7 2794 2794 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 248 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 248 9 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 248 10 56 56 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 248 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 249 1 Lornage lornage NN work_gtjtuksqxvhelgtzrkw2lkyr2a 249 2 X X NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 249 4 Malfatti Malfatti NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 5 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 249 7 Cheraud Cheraud NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 249 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 249 13 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 249 14 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 15 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 249 16 cause cause IN work_gtjtuksqxvhelgtzrkw2lkyr2a 249 17 cap cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 18 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 19 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 249 20 occasional occasional JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 249 21 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 249 22 rods rod NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 249 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 250 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 250 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 250 3 81:467 81:467 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 250 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 250 5 473 473 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 250 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 250 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 250 8 57 57 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 250 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 251 1 Duboscq Duboscq NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 251 3 Bidot Bidot NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 4 L L NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 251 6 Xu Xu NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 7 P P NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 251 9 Charron Charron NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 10 P P NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 251 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 251 15 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 251 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 251 17 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 251 18 Z z JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 251 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 251 20 band band NN work_gtjtuksqxvhelgtzrkw2lkyr2a 251 21 pro- pro- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 251 22 tein tein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 23 myopalladin myopalladin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 24 gene gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 251 25 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 251 26 idiopathic idiopathic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 251 27 dilated dilate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 251 28 cardiomyopathy cardiomyopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 251 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 252 1 Cardio- Cardio- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 252 2 vasc vasc NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 252 3 Res Res NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 252 4 77:118 77:118 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 252 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 252 6 125 125 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 252 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 252 8 2008 2008 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 252 9 58 58 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 252 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 253 1 Purevjav Purevjav NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 2 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 253 4 Arimura Arimura NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 5 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 253 7 Augustin Augustin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 253 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 253 13 Molecular molecular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 253 14 basis basis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 253 15 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 253 16 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 253 17 heterogeneity heterogeneity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 253 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 253 19 inherited inherit VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 253 20 cardiomyopathies cardiomyopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 253 21 due due JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 253 22 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 253 23 myopalladin myopalladin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 253 24 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 253 25 tions tion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 253 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 254 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 254 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 254 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 254 4 21:2039 21:2039 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 254 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 254 6 2053 2053 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 254 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 254 8 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 254 9 59 59 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 254 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 255 1 Meyer Meyer NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 2 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 255 4 Ruppert Ruppert NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 5 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 255 7 Ackermann Ackermann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 255 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 255 13 Novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 255 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 255 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 255 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 255 17 sarco- sarco- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 255 18 meric meric JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 255 19 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 255 20 myopalladin myopalladin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 255 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 255 22 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 255 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 255 24 dilated dilate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 255 25 cardiomyopathy cardiomyopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 255 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 256 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 256 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 256 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 256 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 256 5 21:294 21:294 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 256 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 256 7 300 300 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 256 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 256 9 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 256 10 60 60 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 256 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 257 1 Gupta Gupta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 257 2 VA VA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 257 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 257 4 Beggs Beggs NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 257 5 AH AH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 257 6 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 257 7 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 257 8 proteins protein VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 257 9 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 257 10 Emerging emerge VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 257 11 roles role NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 257 12 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 257 13 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 257 14 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 257 15 development development NN work_gtjtuksqxvhelgtzrkw2lkyr2a 257 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 257 17 diseases disease NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 257 18 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 258 1 Skelet Skelet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 258 2 Muscle Muscle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 258 3 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 258 4 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 258 5 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 258 6 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 259 1 11 11 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 259 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 259 3 5040 5040 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 259 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 259 5 4 4 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 259 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 259 7 11 11 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 259 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 259 9 eCollection ecollection NN work_gtjtuksqxvhelgtzrkw2lkyr2a 259 10 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 259 11 61 61 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 259 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 260 1 Sambuughin Sambuughin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 260 4 Swietnicki Swietnicki NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 5 W W NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 260 7 Techtmann Techtmann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 260 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 260 13 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 14 interacts interact VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 260 15 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 260 16 Cullin Cullin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 260 17 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 260 18 to to TO work_gtjtuksqxvhelgtzrkw2lkyr2a 260 19 form form VB work_gtjtuksqxvhelgtzrkw2lkyr2a 260 20 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 260 21 functional functional JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 260 22 ubiquitin ubiquitin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 260 23 ligase ligase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 260 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 261 1 Biochem Biochem NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 261 2 Biophys Biophys NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 261 3 Res Res NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 261 4 Commun Commun NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 261 5 421:743 421:743 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 261 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 261 7 749 749 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 261 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 261 9 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 261 10 62 62 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 261 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 262 1 Garg Garg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 2 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 262 4 O'Rourke O'Rourke NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 5 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 262 7 Long Long NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 262 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 262 13 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 14 deficiency deficiency NN work_gtjtuksqxvhelgtzrkw2lkyr2a 262 15 destabilizes destabilize VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 262 16 thin thin JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 262 17 filament filament NN work_gtjtuksqxvhelgtzrkw2lkyr2a 262 18 proteins protein NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 262 19 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 262 20 promotes promote VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 262 21 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 262 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 263 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 263 2 Clin Clin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 263 3 Invest Invest NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 263 4 124:3529 124:3529 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 263 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 263 6 3539 3539 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 263 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 263 8 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 263 9 63 63 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 263 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 264 1 Seferian seferian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 264 2 AM am NN work_gtjtuksqxvhelgtzrkw2lkyr2a 264 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 264 4 Malfatti Malfatti NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 5 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 264 7 Bosson Bosson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 264 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 264 13 Mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 264 14 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 264 15 presentation presentation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 264 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 264 17 KLHL40-related KLHL40-related NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 18 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 19 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 20 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 264 21 NEM NEM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 264 22 8) 8) CD work_gtjtuksqxvhelgtzrkw2lkyr2a 264 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 265 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 265 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 265 3 26:712 26:712 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 265 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 265 5 716 716 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 265 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 265 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 265 8 64 64 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 265 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 266 1 Chen Chen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 2 TH TH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 266 4 Tian Tian NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 5 X X NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 266 7 Kuo Kuo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 8 PL PL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 266 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 266 13 Identification identification NN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 15 KLHL40 klhl40 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 266 16 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 266 17 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 18 targeted target VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 19 next next JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 266 20 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 266 21 generation generation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 22 sequencing sequencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 23 facilitated facilitate VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 266 24 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 266 25 prenatal prenatal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 266 26 diagnosis diagnosis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 27 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 28 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 266 29 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 30 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 31 three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 266 32 consecutive consecutive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 266 33 affected affect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 34 fetuses fetus NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 266 35 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 36 fetal fetal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 266 37 akinesia akinesia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 266 38 deformation deformation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 39 sequence sequence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 266 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 267 1 Prenat Prenat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 267 2 Diagn Diagn NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 267 3 36:1135 36:1135 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 267 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 267 5 1138 1138 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 267 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 267 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 267 8 65 65 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 267 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 268 1 Todd Todd NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 2 EJ EJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 268 4 Yau Yau NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 5 KS KS NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 268 7 Ong Ong NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 8 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 268 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 268 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 268 13 Next next JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 268 14 generation generation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 15 sequencing sequence VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 268 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 17 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 268 18 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 268 19 cohort cohort NN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 21 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 268 22 presenting present VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 268 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 24 neuromuscular neuromuscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 268 25 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 26 before before IN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 27 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 268 28 at at IN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 29 birth birth NN work_gtjtuksqxvhelgtzrkw2lkyr2a 268 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 269 1 Orphanet orphanet NN work_gtjtuksqxvhelgtzrkw2lkyr2a 269 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 269 3 Rare Rare NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 269 4 Dis Dis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 269 5 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 269 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 269 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 269 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 270 1 148 148 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 270 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 270 3 015 015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 270 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 270 5 0364 0364 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 270 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 270 7 0 0 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 270 8 66 66 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 270 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 271 1 Natera Natera NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 271 3 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 4 Benito Benito NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 5 D D NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 271 7 Nascimento Nascimento NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 8 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 271 10 Abicht Abicht NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 11 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 271 13 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 14 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 15 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 271 16 KLHL40-related KLHL40-related NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 17 nemaline nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 18 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 271 19 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 271 20 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 271 21 sustained sustained JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 271 22 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 271 23 positive positive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 271 24 response response NN work_gtjtuksqxvhelgtzrkw2lkyr2a 271 25 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 271 26 treatment treatment NN work_gtjtuksqxvhelgtzrkw2lkyr2a 271 27 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 271 28 acetylcholinesterase acetylcholinesterase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 271 29 inhibitors inhibitor NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 271 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 272 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 272 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 272 3 263:517 263:517 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 272 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 272 5 523 523 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 272 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 272 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 272 8 67 67 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 272 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 273 1 Robb Robb NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 2 SA SA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 273 4 Sewry Sewry NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 5 CA CA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 273 7 Dowling Dowling NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 8 JJ JJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 273 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 273 13 Impaired impaired JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 273 14 neuromuscular neuromuscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 273 15 trans- trans- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 273 16 mission mission NN work_gtjtuksqxvhelgtzrkw2lkyr2a 273 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 273 18 response response NN work_gtjtuksqxvhelgtzrkw2lkyr2a 273 19 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 273 20 acetylcholinesterase acetylcholinesterase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 273 21 inhibitors inhibitor NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 273 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 273 23 centronu- centronu- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 24 clear clear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 273 25 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 273 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 274 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 274 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 274 3 21:379 21:379 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 274 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 274 5 386 386 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 274 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 274 7 2011 2011 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 274 8 68 68 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 274 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 275 1 Ramirez Ramirez NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 275 3 Martinez Martinez NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 4 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 275 6 Cenik Cenik NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 7 BK BK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 275 9 Bezprozvannaya Bezprozvannaya NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 10 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 275 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 275 15 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 16 sta- sta- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 275 17 bilizes bilize VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 275 18 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 275 19 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 275 20 sarcomeres sarcomere NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 275 21 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 275 22 nonproteolytic nonproteolytic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 275 23 ubiquitination ubiquitination NN work_gtjtuksqxvhelgtzrkw2lkyr2a 275 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 276 1 Elife elife NN work_gtjtuksqxvhelgtzrkw2lkyr2a 276 2 6 6 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 276 3 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 276 4 https://doi.org/10.7554/eLife.26439 https://doi.org/10.7554/elife.26439 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 276 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 276 6 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 276 7 69 69 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 276 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 277 1 Quane Quane NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 2 KA KA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 277 4 Healy Healy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 5 JM JM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 277 7 Keating Keating NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 8 KE KE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 277 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 277 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 277 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 277 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 277 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 277 16 ryanodine ryanodine JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 277 17 receptor receptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 277 18 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 277 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 277 20 central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 277 21 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 277 22 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 277 23 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 277 24 malignant malignant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 277 25 hyperthermia hyperthermia NN work_gtjtuksqxvhelgtzrkw2lkyr2a 277 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 278 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 3 5:51 5:51 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 278 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 278 5 55 55 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 278 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 278 7 1993 1993 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 278 8 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 9 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0023 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 10 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0024 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0024 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 11 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0024 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0024 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 12 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0024 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0024 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 13 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0025 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0025 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 14 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0025 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0025 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 15 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0025 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0025 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 16 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0026 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0026 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 17 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0026 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0026 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 18 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0026 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0026 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 19 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0027 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0027 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 20 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0027 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0027 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 21 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0027 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0027 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 22 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0028 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0028 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 23 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0028 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0028 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 24 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0028 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0028 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 25 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0029 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0029 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 26 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0029 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0029 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 27 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0030 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0030 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 28 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0030 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0030 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 278 29 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0030 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0030 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 278 30 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0031 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0031 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 31 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0031 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0031 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 32 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0031 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0031 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 33 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0032 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0032 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 34 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0032 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0032 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 35 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0032 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0032 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 36 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0033 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0033 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 37 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0033 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0033 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 38 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0033 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0033 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 39 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0034 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0034 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 40 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0034 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0034 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 41 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0034 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0034 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 42 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0035 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0035 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 43 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0035 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0035 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 44 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0035 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0035 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 45 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0036 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0036 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 46 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0036 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0036 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 47 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0036 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0036 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 48 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0037 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0037 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 49 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0037 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0037 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 50 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0038 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0038 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 51 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0038 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0038 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 52 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0038 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0038 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 53 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0039 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0039 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 54 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0039 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0039 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 55 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0039 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0039 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 56 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0040 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0040 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 57 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0040 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0040 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 58 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0040 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0040 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 59 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0041 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0041 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 60 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0041 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0041 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 61 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0041 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0041 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 62 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0042 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0042 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 63 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0042 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0042 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 64 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0042 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0042 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 65 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0043 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0043 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 66 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0043 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0043 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 67 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0043 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0043 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 68 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 69 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 70 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 71 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0044 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 72 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0045 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0045 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 73 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0045 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0045 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 74 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0045 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0045 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 75 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0046 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0046 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 76 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0046 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0046 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 77 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0046 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0046 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 78 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0047 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0047 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 79 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0047 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0047 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 80 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0047 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0047 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 81 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0048 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0048 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 82 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0048 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0048 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 83 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0048 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0048 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 84 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0049 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0049 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 85 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0049 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0049 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 86 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0049 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0049 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 87 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0050 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0050 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 88 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0050 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0050 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 89 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0050 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0050 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 90 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0051 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0051 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 91 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0051 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0051 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 92 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0051 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0051 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 93 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0052 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0052 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 94 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0052 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0052 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 278 95 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0053 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0053 , work_gtjtuksqxvhelgtzrkw2lkyr2a 278 96 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0053 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0053 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 97 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0053 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0053 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 98 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0054 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0054 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 99 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0054 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0054 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 100 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0054 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0054 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 101 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0055 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0055 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 102 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0055 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0055 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 103 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0055 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0055 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 104 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0056 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0056 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 105 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0056 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0056 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 106 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0056 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0056 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 107 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0057 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0057 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 278 108 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0057 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0057 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 109 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0057 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0057 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 110 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0058 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0058 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 111 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0058 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0058 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 112 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0058 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0058 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 113 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0059 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0059 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 114 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0059 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0059 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 115 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0059 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0059 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 116 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0060 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0060 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 117 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0060 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0060 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 118 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0060 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0060 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 119 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0061 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0061 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 278 120 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0061 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0061 PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 121 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0061 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0061 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 278 122 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0062 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0062 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 278 123 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0062 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0062 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 124 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0062 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0062 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 125 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0063 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0063 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 126 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0063 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0063 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 127 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0063 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0063 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 128 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 129 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 130 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 131 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0064 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 132 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0065 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0065 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 133 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0065 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0065 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 134 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0065 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0065 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 135 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0066 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0066 VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 278 136 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0066 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0066 VB work_gtjtuksqxvhelgtzrkw2lkyr2a 278 137 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0066 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0066 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 138 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0067 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0067 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 139 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0067 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0067 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 140 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0067 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0067 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 141 https://doi.org/10.7554/eLife.26439 https://doi.org/10.7554/eLife.26439 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 142 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0069 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0069 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 143 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0069 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0069 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 144 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0069 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0069 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 145 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 146 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 147 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 278 148 21 21 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 278 149 70 70 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 278 150 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 279 1 Zhang Zhang NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 2 Y Y NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 279 4 Chen Chen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 5 HS HS NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 279 7 Khanna Khanna NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 8 VK VK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 279 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 279 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 279 14 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 279 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 279 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 279 17 human human JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 279 18 ryano- ryano- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 19 dine dine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 20 receptor receptor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 279 21 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 279 22 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 279 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 279 24 central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 279 25 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 279 26 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 279 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 280 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 280 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 280 3 5:46 5:46 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 280 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 280 5 50 50 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 280 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 280 7 1993 1993 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 280 8 71 71 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 280 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 281 1 McCarthy McCarthy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 281 2 TV TV NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 281 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 281 4 Quane Quane NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 281 5 KA KA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 281 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 281 7 Lynch Lynch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 281 8 PJ PJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 281 9 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 281 10 Ryanodine ryanodine JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 281 11 receptor receptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 281 12 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 281 13 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 281 14 malignant malignant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 281 15 hyperthermia hyperthermia NN work_gtjtuksqxvhelgtzrkw2lkyr2a 281 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 281 17 central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 281 18 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 281 19 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 281 20 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 282 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 282 2 Mutat Mutat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 282 3 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 282 4 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 282 5 410 410 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 282 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 282 7 417 417 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 282 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 282 9 2000 2000 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 282 10 72 72 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 282 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 283 1 Ferreiro Ferreiro NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 2 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 283 4 Quijano Quijano NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 283 6 Roy Roy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 7 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 283 9 Pichereau Pichereau NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 10 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 283 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 283 15 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 283 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 17 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 283 18 selenopro- selenopro- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 19 tein tein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 20 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 283 21 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 22 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 283 23 which which WDT work_gtjtuksqxvhelgtzrkw2lkyr2a 283 24 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 283 25 implicated implicate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 26 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 27 rigid rigid JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 283 28 spine spine NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 29 muscular muscular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 283 30 dystrophy dystrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 31 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 283 32 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 283 33 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 283 34 classical classical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 283 35 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 36 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 37 multiminicore multiminicore NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 38 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 39 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 283 40 Reassessing reassess VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 283 41 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 283 42 nosology nosology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 43 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 44 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 283 45 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 283 46 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 283 47 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 283 48 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 284 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 284 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 284 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 284 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 284 5 71:739 71:739 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 284 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 284 7 749 749 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 284 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 284 9 2002 2002 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 284 10 73 73 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 284 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 285 1 Boyden Boyden NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 2 SE SE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 285 4 Mahoney Mahoney NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 5 LJ LJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 285 7 Kawahara Kawahara NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 8 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 285 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 285 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 285 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 285 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 285 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 285 16 satellite satellite NN work_gtjtuksqxvhelgtzrkw2lkyr2a 285 17 cell cell NN work_gtjtuksqxvhelgtzrkw2lkyr2a 285 18 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 285 19 MEGF10 megf10 UH work_gtjtuksqxvhelgtzrkw2lkyr2a 285 20 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 285 21 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 285 22 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 285 23 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 285 24 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 285 25 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 285 26 mini- mini- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 285 27 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 285 28 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 286 1 Neurogenetics neurogenetic NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 286 2 13:115 13:115 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 286 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 286 4 124 124 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 286 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 286 6 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 286 7 74 74 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 286 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 287 1 Chauveau Chauveau NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 2 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 287 4 Bonnemann Bonnemann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 5 CG CG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 287 7 Julien Julien NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 287 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 287 13 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 287 14 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 15 truncating truncating JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 287 16 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 287 17 define define VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 18 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 287 19 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 287 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 287 21 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 287 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 287 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 287 24 heart heart NN work_gtjtuksqxvhelgtzrkw2lkyr2a 287 25 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 287 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 288 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 288 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 288 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 288 4 23:980 23:980 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 288 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 288 6 991 991 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 288 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 288 8 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 288 9 75 75 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 288 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 289 1 Cullup Cullup NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 2 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 289 4 Lamont Lamont NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 5 PJ PJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 289 7 Cirak Cirak NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 289 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 289 13 Mutations Mutations NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 289 15 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 16 cause cause IN work_gtjtuksqxvhelgtzrkw2lkyr2a 289 17 Multi- Multi- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 18 minicore minicore NN work_gtjtuksqxvhelgtzrkw2lkyr2a 289 19 Disease Disease NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 20 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 289 21 MmD MmD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 289 22 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 289 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 289 24 variable variable JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 289 25 cardiac cardiac JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 289 26 involvement involvement NN work_gtjtuksqxvhelgtzrkw2lkyr2a 289 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 290 1 Neuro- Neuro- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 290 2 muscul muscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 290 3 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 290 4 22:1096 22:1096 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 290 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 290 6 1104 1104 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 290 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 290 8 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 290 9 76 76 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 290 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 291 1 Davis Davis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 2 MR MR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 291 4 Haan Haan NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 5 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 291 7 Jungbluth Jungbluth NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 8 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 291 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 291 13 Principal principal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 291 14 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 15 hotspot hotspot NN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 16 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 17 central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 291 18 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 19 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 20 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 291 21 related related JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 291 22 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 291 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 24 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 291 25 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 26 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 291 27 terminal terminal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 291 28 transmem- transmem- . work_gtjtuksqxvhelgtzrkw2lkyr2a 291 29 brane brane NN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 30 region region NN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 31 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 32 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 291 33 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 291 34 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 291 35 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 292 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 292 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 292 3 13:151 13:151 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 292 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 292 5 157 157 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 292 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 292 7 2003 2003 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 292 8 77 77 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 292 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 293 1 Jungbluth Jungbluth NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 293 2 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 293 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 293 4 Sewry Sewry NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 293 5 CA CA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 293 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 293 7 Muntoni Muntoni NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 293 8 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 293 9 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 293 10 Core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 293 11 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 293 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 294 1 Semin Semin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 294 2 Pediatr Pediatr NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 294 3 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 294 4 18:239 18:239 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 294 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 294 6 249 249 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 294 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 294 8 2011 2011 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 294 9 78 78 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 294 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 295 1 Lillis Lillis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 2 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 295 4 Abbs Abbs NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 295 7 Mueller Mueller NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 8 CR CR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 295 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 295 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 295 13 Clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 295 14 utility utility NN work_gtjtuksqxvhelgtzrkw2lkyr2a 295 15 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 295 16 card card NN work_gtjtuksqxvhelgtzrkw2lkyr2a 295 17 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 295 18 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 295 19 Central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 295 20 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 295 21 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 295 22 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 296 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 296 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 296 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 296 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 296 5 20 20 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 296 6 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 296 7 https://doi.org/10.1038/ https://doi.org/10.1038/ NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 296 8 ejhg.2011.179 ejhg.2011.179 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 296 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 296 10 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 296 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 297 1 Epub Epub NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 297 2 2011 2011 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 297 3 Oct Oct NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 297 4 12 12 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 297 5 79 79 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 297 6 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 298 1 Scacheri scacheri NN work_gtjtuksqxvhelgtzrkw2lkyr2a 298 2 PC pc NN work_gtjtuksqxvhelgtzrkw2lkyr2a 298 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 298 4 Hoffman Hoffman NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 298 5 EP EP NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 298 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 298 7 Fratkin Fratkin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 298 8 JD JD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 298 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 298 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 298 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 298 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 298 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 298 14 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 298 15 ryanodine ryanodine JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 298 16 receptor receptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 298 17 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 298 18 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 298 19 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 298 20 both both CC work_gtjtuksqxvhelgtzrkw2lkyr2a 298 21 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 298 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 298 23 rods rod NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 298 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 298 25 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 298 26 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 298 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 299 1 Neurology neurology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 299 2 55:1689 55:1689 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 299 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 299 4 1696 1696 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 299 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 299 6 2000 2000 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 299 7 80 80 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 299 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 299 9 von von NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 10 der der IN work_gtjtuksqxvhelgtzrkw2lkyr2a 299 11 Hagen Hagen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 12 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 13 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 299 14 Kress Kress NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 15 W W NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 299 17 Hahn Hahn NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 18 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 299 20 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 21 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 22 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 299 23 Novel Novel NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 24 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 25 missense missense NN work_gtjtuksqxvhelgtzrkw2lkyr2a 299 26 muta- muta- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 299 27 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 299 28 causes cause VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 299 29 core core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 30 rod rod NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 31 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 299 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 300 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 300 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 300 3 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 300 4 15 15 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 300 5 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 300 6 e31-e32 e31-e32 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 300 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 300 8 2008 2008 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 300 9 81 81 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 300 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 301 1 Hernandez Hernandez NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 301 3 Lain Lain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 4 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 301 6 Husson Husson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 7 I I NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 301 9 Monnier Monnier NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 10 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 301 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 301 15 De De NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 16 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 17 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 18 hetero- hetero- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 301 19 zygous zygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 301 20 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 301 21 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 301 22 I4898 I4898 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 23 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 24 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 301 25 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 301 26 lethal lethal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 301 27 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 301 28 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 301 29 rod rod NN work_gtjtuksqxvhelgtzrkw2lkyr2a 301 30 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 301 31 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 301 32 twins twin NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 301 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 302 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 302 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 302 3 Med Med NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 302 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 302 5 54:29 54:29 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 302 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 302 7 33 33 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 302 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 302 9 2011 2011 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 302 10 82 82 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 302 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 303 1 Zhou Zhou NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 2 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 303 4 Jungbluth Jungbluth NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 5 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 303 7 Sewry Sewry NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 8 CA CA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 303 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 303 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 303 13 Molecular molecular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 303 14 mechanisms mechanism NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 303 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 303 16 phenotypic phenotypic NN work_gtjtuksqxvhelgtzrkw2lkyr2a 303 17 variation variation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 303 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 303 19 RYR1-related ryr1-related JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 303 20 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 303 21 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 303 22 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 304 1 Brain Brain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 304 2 130:2024 130:2024 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 304 3 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 304 4 2036 2036 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 304 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 304 6 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 304 7 83 83 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 304 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 305 1 Snoeck Snoeck NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 305 4 van van NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 5 Engelen Engelen NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 6 BG BG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 305 8 Kusters Kusters NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 9 B B NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 305 11 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 12 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 305 13 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 305 14 RYR1-related ryr1-relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 305 15 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 305 16 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 305 17 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 305 18 wide wide JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 305 19 spectrum spectrum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 305 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 305 21 phenotypes phenotype NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 305 22 throughout throughout IN work_gtjtuksqxvhelgtzrkw2lkyr2a 305 23 life life NN work_gtjtuksqxvhelgtzrkw2lkyr2a 305 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 306 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 306 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 306 3 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 306 4 22 22 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 306 5 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 306 6 1094 1094 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 306 7 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 306 8 1112 1112 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 306 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 306 10 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 306 11 84 84 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 306 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 307 1 Monnier Monnier NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 307 4 Laquerriere Laquerriere NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 5 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 307 7 Marret Marret NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 307 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 307 13 First first JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 307 14 genomic genomic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 307 15 rearrangement rearrangement NN work_gtjtuksqxvhelgtzrkw2lkyr2a 307 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 307 17 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 307 18 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 19 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 307 20 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 307 21 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 307 22 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 307 23 atypical atypical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 307 24 presentation presentation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 307 25 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 307 26 lethal lethal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 307 27 neo- neo- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 28 natal natal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 29 hypotonia hypotonia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 307 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 308 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 308 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 308 3 19:680 19:680 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 308 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 308 5 684 684 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 308 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 308 7 2009 2009 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 308 8 85 85 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 308 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 309 1 Remiche Remiche NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 2 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 309 4 Kadhim Kadhim NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 5 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 309 7 Abramowicz Abramowicz NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 309 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 309 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 309 14 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 309 15 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 309 16 deletion deletion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 17 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 18 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 309 19 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 20 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 22 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 309 23 Belgian belgian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 309 24 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 25 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 26 late late JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 309 27 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 309 28 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 29 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 309 30 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 309 31 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 309 32 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 309 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 310 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 310 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 310 3 25:397 25:397 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 310 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 310 5 402 402 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 310 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 310 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 310 8 86 86 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 310 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 311 1 Laquerriere Laquerriere NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 2 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 311 4 Maluenda Maluenda NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 5 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 311 7 Camus Camus NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 8 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 311 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 311 13 Mutations Mutations NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 311 15 CNTNAP1 cntnap1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 311 16 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 311 17 ADCY6 adcy6 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 311 18 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 19 responsible responsible JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 311 20 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 311 21 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 311 22 arthrogryposis arthrogryposis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 311 23 multiplex multiplex NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 24 conge- conge- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 25 nita nita NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 311 26 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 311 27 axoglial axoglial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 311 28 defects defect NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 311 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 312 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 312 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 312 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 312 4 23:2279 23:2279 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 312 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 312 6 2289 2289 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 312 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 312 8 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 312 9 87 87 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 312 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 313 1 Petit Petit NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 313 4 Lescure Lescure NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 5 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 313 7 Rederstorff Rederstorff NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 313 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 313 13 Selenoprotein Selenoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 14 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 15 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 313 16 An an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 313 17 endoplas- endoplas- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 313 18 mic mic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 19 reticulum reticulum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 20 glycoprotein glycoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 313 21 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 313 22 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 313 23 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 313 24 developmental developmental JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 313 25 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 313 26 pattern pattern NN work_gtjtuksqxvhelgtzrkw2lkyr2a 313 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 314 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 314 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 314 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 314 4 12:1045 12:1045 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 314 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 314 6 1053 1053 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 314 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 314 8 2003 2003 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 314 9 88 88 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 314 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 315 1 Jurynec Jurynec NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 2 MJ MJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 315 4 Xia Xia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 5 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 315 7 Mackrill Mackrill NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 8 JJ JJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 315 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 315 13 Selenoprotein Selenoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 14 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 15 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 315 16 required require VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 315 17 for for IN work_gtjtuksqxvhelgtzrkw2lkyr2a 315 18 ryanodine ryanodine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 19 receptor receptor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 20 calcium calcium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 315 21 release release NN work_gtjtuksqxvhelgtzrkw2lkyr2a 315 22 channel channel NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 23 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 315 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 315 25 human human NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 315 26 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 315 27 zebrafish zebrafish JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 315 28 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 315 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 316 1 Proc Proc NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 316 2 Natl Natl NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 316 3 Acad Acad NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 316 4 Sci Sci NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 316 5 U U NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 316 6 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 316 7 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 316 8 105:12485 105:12485 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 316 9 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 316 10 12490 12490 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 316 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 316 12 2008 2008 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 316 13 89 89 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 316 14 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 317 1 Marino Marino NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 317 4 Stoilova Stoilova NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 5 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 317 7 Giorgi Giorgi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 317 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 317 13 SEPN1 SEPN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 317 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 317 15 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 317 16 endoplasmic endoplasmic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 317 17 reticu- reticu- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 18 lum lum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 317 20 localized localized JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 317 21 selenoprotein selenoprotein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 22 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 23 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 24 skeletal skeletal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 317 25 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 26 pathology pathology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 317 28 coun- coun- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 317 29 teracts teract NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 317 30 hyperoxidation hyperoxidation JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 317 31 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 32 means mean NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 317 33 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 34 redox redox NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 35 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 317 36 regulating regulate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 317 37 SERCA2 serca2 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 38 pump pump NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 39 activity activity NN work_gtjtuksqxvhelgtzrkw2lkyr2a 317 40 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 318 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 318 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 318 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 318 4 24:1843 24:1843 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 318 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 318 6 1855 1855 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 318 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 318 8 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 318 9 90 90 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 318 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 319 1 Ferreiro Ferreiro NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 2 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 319 4 Ceuterick Ceuterick NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 319 6 de de NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 7 Groote Groote NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 319 10 Marks Marks NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 11 JJ JJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 12 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 319 13 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 14 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 15 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 319 16 Desmin Desmin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 17 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 319 18 related relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 19 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 20 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 21 Mallory Mallory NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 22 body body NN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 23 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 319 24 like like JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 319 25 inclusions inclusion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 319 26 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 319 27 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 28 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 29 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 319 30 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 31 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 319 32 selenoprotein selenoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 33 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 319 34 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 319 35 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 320 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 320 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 320 3 55:676 55:676 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 320 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 320 5 686 686 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 320 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 320 7 2004 2004 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 320 8 91 91 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 320 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 321 1 Clarke Clarke NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 2 NF NF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 321 4 Kidson Kidson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 5 W W NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 321 7 Quijano Quijano NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 321 9 Roy Roy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 10 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 321 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 321 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 321 15 SEPN1 sepn1 XX work_gtjtuksqxvhelgtzrkw2lkyr2a 321 16 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 321 17 Associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 321 18 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 321 19 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 321 20 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 321 21 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 321 22 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 321 23 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 321 24 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 321 25 insulin insulin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 321 26 resistance resistance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 321 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 322 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 322 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 322 3 59:546 59:546 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 322 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 322 5 552 552 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 322 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 322 7 2006 2006 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 322 8 92 92 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 322 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 323 1 Scoto Scoto NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 323 4 Cirak Cirak NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 323 7 Mein Mein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 8 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 323 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 323 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 323 13 SEPN1-related sepn1-relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 323 14 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 323 15 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 323 16 Clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 323 17 course course NN work_gtjtuksqxvhelgtzrkw2lkyr2a 323 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 323 19 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 323 20 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 323 21 cohort cohort NN work_gtjtuksqxvhelgtzrkw2lkyr2a 323 22 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 323 23 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 323 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 324 1 Neurology Neurology NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 324 2 76:2073 76:2073 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 324 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 324 4 2078 2078 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 324 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 324 6 2011 2011 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 324 7 93 93 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 324 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 325 1 Ardissone Ardissone NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 2 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 325 4 Bragato Bragato NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 5 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 325 7 Blasevich Blasevich NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 8 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 325 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 325 13 SEPN1-related SEPN1-related NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 325 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 325 16 three three CD work_gtjtuksqxvhelgtzrkw2lkyr2a 325 17 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 325 18 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 325 19 Novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 325 20 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 325 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 325 22 diagnostic diagnostic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 325 23 clues clue NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 325 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 326 1 Eur Eur NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 326 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 326 3 Pediatr Pediatr NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 326 4 175:1113 175:1113 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 326 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 326 6 1118 1118 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 326 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 326 8 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 326 9 94 94 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 326 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 327 1 Saha Saha NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 327 4 Mitsuhashi Mitsuhashi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 327 7 Jones Jones NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 8 MD MD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 327 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 327 13 Consequences consequence NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 327 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 327 15 MEGF10 MEGF10 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 16 defi- defi- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 327 17 ciency ciency NN work_gtjtuksqxvhelgtzrkw2lkyr2a 327 18 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 327 19 myoblast myoblast NN work_gtjtuksqxvhelgtzrkw2lkyr2a 327 20 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 327 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 327 22 Notch1 Notch1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 327 23 interactions interaction NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 327 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 328 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 328 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 328 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 328 4 26:2984 26:2984 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 328 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 328 6 3000 3000 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 328 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 328 8 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 328 9 95 95 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 328 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 329 1 Kolmerer Kolmerer NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 2 B B NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 329 4 Witt Witt NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 5 CC CC NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 329 7 Freiburg Freiburg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 8 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 329 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 329 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 329 13 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 329 14 titin titin IN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 15 cDNA cdna NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 16 sequence sequence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 329 18 partial partial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 329 19 genomic genomic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 329 20 sequences sequence NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 329 21 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 329 22 Insights insight NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 329 23 into into IN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 24 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 329 25 molecular molecular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 329 26 genetics genetic NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 329 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 329 28 cell cell NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 29 biology biology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 30 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 329 31 physiology physiology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 32 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 33 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 329 34 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 35 filament filament NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 36 system system NN work_gtjtuksqxvhelgtzrkw2lkyr2a 329 37 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 330 1 Rev Rev NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 330 2 Physiol Physiol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 330 3 Bio- Bio- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 330 4 chem chem NN work_gtjtuksqxvhelgtzrkw2lkyr2a 330 5 Pharmacol Pharmacol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 330 6 138:19 138:19 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 330 7 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 330 8 55 55 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 330 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 330 10 1999 1999 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 330 11 96 96 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 330 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 331 1 Bang Bang NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 2 ML ML NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 331 4 Centner Centner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 5 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 331 7 Fornoff Fornoff NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 8 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 331 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 331 13 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 331 14 complete complete JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 331 15 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 16 sequence sequence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 17 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 18 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 331 20 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 21 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 22 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 331 23 unusual unusual JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 331 24 approximately approximately RB work_gtjtuksqxvhelgtzrkw2lkyr2a 331 25 700-kDa 700-kda NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 26 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 27 isoform isoform NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 28 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 331 29 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 331 30 its -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 331 31 interaction interaction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 32 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 33 obscurin obscurin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 331 34 identify identify VB work_gtjtuksqxvhelgtzrkw2lkyr2a 331 35 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 331 36 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 331 37 Z z NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 38 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 331 39 line line NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 40 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 41 I i NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 42 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 331 43 band band NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 44 link- link- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 45 ing ing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 46 system system NN work_gtjtuksqxvhelgtzrkw2lkyr2a 331 47 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 332 1 Circ Circ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 332 2 Res Res NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 332 3 89:1065 89:1065 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 332 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 332 5 1072 1072 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 332 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 332 7 2001 2001 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 332 8 97 97 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 332 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 333 1 Carmignac Carmignac NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 2 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 333 4 Salih Salih NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 5 MA MA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 333 7 Quijano Quijano NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 333 9 Roy Roy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 10 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 333 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 333 15 C c NN work_gtjtuksqxvhelgtzrkw2lkyr2a 333 16 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 333 17 terminal terminal NN work_gtjtuksqxvhelgtzrkw2lkyr2a 333 18 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 333 19 deletions deletion NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 333 20 cause cause VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 21 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 333 22 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 333 23 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 333 24 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 333 25 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 333 26 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 333 27 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 333 28 fatal fatal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 333 29 cardiomyopathy cardiomyopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 333 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 334 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 334 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 334 3 61:340 61:340 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 334 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 334 5 351 351 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 334 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 334 7 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 334 8 98 98 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 334 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 335 1 Colegrave Colegrave NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 335 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 335 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 335 4 Peckham Peckham NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 335 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 335 6 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 335 7 Structural structural JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 335 8 implications implication NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 335 9 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 335 10 beta beta NN work_gtjtuksqxvhelgtzrkw2lkyr2a 335 11 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 335 12 cardiac cardiac NN work_gtjtuksqxvhelgtzrkw2lkyr2a 335 13 myo- myo- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 335 14 sin sin VB work_gtjtuksqxvhelgtzrkw2lkyr2a 335 15 heavy heavy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 335 16 chain chain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 335 17 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 335 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 335 19 human human JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 335 20 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 335 21 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 336 1 Anat Anat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 336 2 Rec Rec NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 336 3 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 336 4 Hoboken Hoboken NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 336 5 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 336 6 297:1670 297:1670 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 336 7 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 336 8 1680 1680 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 336 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 336 10 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 336 11 99 99 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 336 12 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 337 1 Lamont Lamont NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 2 PJ PJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 337 4 Udd Udd NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 5 B B NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 337 7 Mastaglia Mastaglia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 8 FL FL NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 337 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 337 13 Laing lae VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 337 14 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 337 15 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 337 16 distal distal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 337 17 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 337 18 thy thy PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 337 19 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 337 20 Slow slow JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 337 21 myosin myosin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 337 22 defect defect NN work_gtjtuksqxvhelgtzrkw2lkyr2a 337 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 337 24 variable variable JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 337 25 abnormalities abnormality NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 337 26 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 337 27 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 337 28 biopsy biopsy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 337 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 338 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 338 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 338 3 Neurosurg Neurosurg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 338 4 Psychiatry Psychiatry NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 338 5 77:208 77:208 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 338 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 338 7 215 215 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 338 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 338 9 2006 2006 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 338 10 100 100 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 338 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 339 1 Romero Romero NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 2 NB NB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 339 4 Xie Xie NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 5 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 339 7 Malfatti Malfatti NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 8 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 339 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 339 13 Autosomal Autosomal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 14 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 339 15 eccentric eccentric JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 339 16 core core NN work_gtjtuksqxvhelgtzrkw2lkyr2a 339 17 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 339 18 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 339 19 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 339 20 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 339 21 heterozygous heterozygous JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 339 22 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 339 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 339 24 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 339 25 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 339 26 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 339 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 340 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 340 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 340 3 Neurosurg Neurosurg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 340 4 Psychiatry Psychiatry NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 340 5 85:1149 85:1149 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 340 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 340 7 1152 1152 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 340 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 340 9 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 340 10 101 101 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 340 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 341 1 Wilmshurst Wilmshurst NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 2 JM JM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 341 4 Lillis Lillis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 341 7 Zhou Zhou NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 8 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 341 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 341 13 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 341 15 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 341 16 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 341 17 common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 341 18 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 341 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 341 20 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 341 21 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 341 22 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 341 23 central central JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 341 24 nuclei nucleus NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 341 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 342 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 342 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 342 3 68:717 68:717 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 342 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 342 5 726 726 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 342 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 342 7 2010 2010 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 342 8 102 102 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 342 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 343 1 Bevilacqua Bevilacqua NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 2 JA JA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 343 4 Monnier Monnier NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 5 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 343 7 Bitoun Bitoun NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 343 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 343 13 Recessive Recessive NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 14 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 15 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 343 16 cause cause VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 17 unusual unusual JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 343 18 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 343 19 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 20 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 343 21 prominent prominent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 343 22 nuclear nuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 23 internali- internali- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 343 24 zation zation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 343 25 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 343 26 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 343 27 areas area NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 343 28 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 343 29 myofibrillar myofibrillar JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 343 30 disorganization disorganization NN work_gtjtuksqxvhelgtzrkw2lkyr2a 343 31 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 344 1 Neuropathol Neuropathol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 344 2 Appl Appl NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 344 3 Neurobiol Neurobiol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 344 4 37:271 37:271 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 344 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 344 6 284 284 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 344 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 344 8 2011 2011 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 344 9 103 103 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 344 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 345 1 Fattori Fattori NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 2 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 345 4 Maggi Maggi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 5 L L NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 345 7 Bruno Bruno NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 345 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 345 13 Centronuclear Centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 345 14 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 345 15 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 345 16 Geno- Geno- VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 17 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 18 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 345 19 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 20 correlation correlation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 345 22 frequency frequency NN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 24 defined define VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 25 genetic genetic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 345 26 forms form NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 345 27 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 28 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 345 29 Italian italian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 345 30 cohort cohort NN work_gtjtuksqxvhelgtzrkw2lkyr2a 345 31 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 346 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 346 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 346 3 262:1728 262:1728 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 346 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 346 5 1740 1740 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 346 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 346 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 346 8 104 104 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 346 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 347 1 Abath Abath NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 2 Neto Neto NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 3 O O NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 4 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 347 5 Moreno Moreno NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 6 CAM CAM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 347 8 Malfatti Malfatti NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 9 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 347 11 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 12 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 347 13 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 347 14 Common common JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 347 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 347 16 variable variable JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 347 17 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 347 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 347 19 histological histological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 347 20 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 347 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 347 22 imaging image VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 347 23 findings finding NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 347 24 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 347 25 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 347 26 RYR1-related ryr1-related JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 347 27 cen- cen- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 347 28 tronuclear tronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 347 29 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 347 30 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 347 31 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 348 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 348 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 348 3 27:975 27:975 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 348 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 348 5 985 985 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 348 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 348 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 348 8 105 105 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 348 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 349 1 Ceyhan Ceyhan NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 349 3 Birsoy birsoy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 349 4 O o NN work_gtjtuksqxvhelgtzrkw2lkyr2a 349 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 349 6 Agrawal Agrawal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 7 PB PB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 349 9 Hidalgo Hidalgo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 10 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 349 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 349 15 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 349 16 truncating truncating NN work_gtjtuksqxvhelgtzrkw2lkyr2a 349 17 titin titin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 349 18 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 349 19 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 349 20 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 349 22 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 349 23 presenting present VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 349 24 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 349 25 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 349 26 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 349 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 350 1 Neurology neurology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 350 2 81:1205 81:1205 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 350 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 350 4 1214 1214 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 350 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 350 6 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 350 7 106 106 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 350 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 351 1 Witting Witting NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 351 4 Werlauff Werlauff NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 5 U U NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 351 7 Duno Duno NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 351 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 351 13 Phenotypes Phenotypes NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 14 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 351 15 genotypes genotype NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 351 16 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 351 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 351 18 prevalence prevalence NN work_gtjtuksqxvhelgtzrkw2lkyr2a 351 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 351 20 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 351 21 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 351 22 older old JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 351 23 than than IN work_gtjtuksqxvhelgtzrkw2lkyr2a 351 24 5 5 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 351 25 years year NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 351 26 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 351 27 Denmark Denmark NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 351 28 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 352 1 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 352 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 352 3 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 352 4 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 352 5 e140 e140 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 352 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 352 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 352 8 107 107 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 352 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 353 1 Laporte Laporte NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 353 4 Hu Hu NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 5 LJ LJ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 353 7 Kretz Kretz NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 353 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 353 13 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 353 14 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 15 mutated mutate VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 353 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 17 X X NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 18 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 353 19 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 20 myotubu- myotubu- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 21 lar lar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 353 23 defines define VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 353 24 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 353 25 new new JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 353 26 putative putative JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 353 27 tyrosine tyrosine NN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 28 phosphatase phosphatase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 29 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 30 con- con- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 31 served serve VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 353 32 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 33 yeast yeast NN work_gtjtuksqxvhelgtzrkw2lkyr2a 353 34 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 354 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 354 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 354 3 13:175 13:175 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 354 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 354 5 182 182 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 354 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 354 7 1996 1996 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 354 8 108 108 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 354 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 355 1 Amoasii Amoasii NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 2 L L NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 355 4 Hnia Hnia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 5 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 355 7 Chicanne Chicanne NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 8 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 355 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 355 13 Myotubularin Myotubularin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 14 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 355 15 PtdIns3P PtdIns3P NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 16 remodel remodel NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 17 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 355 18 sarcoplasmic sarcoplasmic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 355 19 reticulum reticulum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 355 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 355 21 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 355 22 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 355 23 vivo vivo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 355 24 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 356 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 356 2 Cell Cell NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 356 3 Sci Sci NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 356 4 126:1806 126:1806 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 356 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 356 6 1819 1819 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 356 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 356 8 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 356 9 109 109 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 356 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 357 1 Laporte Laporte NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 357 4 Biancalana Biancalana NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 5 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 357 7 Tanner Tanner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 8 SM SM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 357 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 357 13 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 357 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 357 16 X X NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 357 17 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 357 18 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 357 19 myotubular myotubular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 357 20 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 357 21 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 358 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 358 2 Mutat Mutat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 358 3 15:393 15:393 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 358 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 358 5 409 409 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 358 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 358 7 2000 2000 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 358 8 110 110 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 358 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 359 1 Longo Longo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 2 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 359 4 Russo Russo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 359 7 Novelli Novelli NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 8 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 359 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 359 13 Mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 14 spectrum spectrum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 359 17 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 18 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 20 XLMTM XLMTM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 21 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 359 22 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 359 23 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 359 24 years year NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 359 25 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 26 experience experience NN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 27 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 28 prenatal prenatal NN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 29 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 359 30 post- post- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 359 31 natal natal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 359 32 diagnosis diagnosis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 359 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 360 1 Clin Clin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 360 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 360 3 89:93 89:93 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 360 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 360 5 98 98 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 360 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 360 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 360 8 111 111 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 360 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 361 1 Tanner Tanner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 2 SM SM NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 361 4 Schneider Schneider NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 5 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 361 7 Thomas Thomas NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 8 NS NS NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 361 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 361 13 Characterization Characterization NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 361 15 34 34 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 361 16 novel novel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 361 17 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 361 18 six six CD work_gtjtuksqxvhelgtzrkw2lkyr2a 361 19 known know VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 361 20 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 361 21 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 361 22 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 361 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 361 24 47 47 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 361 25 unrelated unrelated JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 361 26 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 361 27 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 361 28 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 361 29 myotubular myotubular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 361 30 myopathy myopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 361 31 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 361 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 362 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 362 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 362 3 9:41 9:41 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 362 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 362 5 49 49 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 362 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 362 7 1999 1999 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 362 8 112 112 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 362 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 363 1 Al Al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 363 3 Hashim Hashim NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 4 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 363 6 Gonorazky Gonorazky NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 7 HD HD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 363 9 Amburgey Amburgey NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 10 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 363 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 363 15 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 363 16 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 363 17 intronic intronic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 363 18 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 20 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 21 detected detect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 22 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 23 RNA RNA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 363 24 analysis analysis NN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 25 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 26 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 363 27 case case NN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 28 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 29 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 30 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 363 31 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 32 myotubular myotubular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 363 33 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 363 34 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 364 1 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 364 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 364 3 3 3 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 364 4 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 364 5 e182 e182 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 364 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 364 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 364 8 113 113 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 364 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 365 1 Hedberg Hedberg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 365 3 Oldfors Oldfors NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 4 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 365 6 Visuttijai Visuttijai NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 7 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 365 9 Topa Topa NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 10 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 365 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 365 15 Grand Grand NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 16 paternal paternal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 365 17 inheri- inheri- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 18 tance tance NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 20 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 21 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 365 22 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 23 myotubular myotubular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 365 24 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 25 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 26 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 27 mosaicism mosaicism NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 28 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 365 29 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 365 30 identi- identi- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 365 31 fication fication NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 32 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 33 necklace necklace NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 34 fibers fiber NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 365 35 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 36 an an DT work_gtjtuksqxvhelgtzrkw2lkyr2a 365 37 asymptomatic asymptomatic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 365 38 male male NN work_gtjtuksqxvhelgtzrkw2lkyr2a 365 39 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 366 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 366 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 366 3 27:843 27:843 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 366 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 366 5 847 847 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 366 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 366 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 366 8 114 114 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 366 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 367 1 Biancalana Biancalana NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 2 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 367 4 Scheidecker Scheidecker NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 367 7 Miguet Miguet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 367 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 367 13 Affected affect VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 367 14 female female JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 15 carriers carrier NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 367 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 367 17 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 18 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 367 19 display display VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 20 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 367 21 wide wide JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 22 spectrum spectrum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 367 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 367 24 clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 25 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 367 26 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0070 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0070 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 27 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0070 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0070 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 28 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0070 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0070 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 29 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0071 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0071 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 30 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0071 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0071 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 31 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0071 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0071 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 32 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 33 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 34 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 35 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0072 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 36 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0073 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0073 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 37 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0073 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0073 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 38 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0073 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0073 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 39 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0074 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0074 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 40 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0074 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0074 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 41 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0074 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0074 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 42 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0075 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0075 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 43 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0075 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0075 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 44 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0075 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0075 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 45 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0076 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0076 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 46 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0076 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0076 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 47 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0076 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0076 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 48 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0077 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0077 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 49 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0077 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0077 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 367 50 https://doi.org/10.1038/ejhg.2011.179 https://doi.org/10.1038/ejhg.2011.179 : work_gtjtuksqxvhelgtzrkw2lkyr2a 367 51 https://doi.org/10.1038/ejhg.2011.179 https://doi.org/10.1038/ejhg.2011.179 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 52 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0079 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0079 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 53 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0079 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0079 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 54 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0079 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0079 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 55 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0080 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0080 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 56 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0080 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0080 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 57 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0081 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0081 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 58 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0081 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0081 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 59 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0081 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0081 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 60 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0082 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0082 RB work_gtjtuksqxvhelgtzrkw2lkyr2a 367 61 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0082 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0082 RB work_gtjtuksqxvhelgtzrkw2lkyr2a 367 62 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0082 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0082 RB work_gtjtuksqxvhelgtzrkw2lkyr2a 367 63 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0083 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0083 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 64 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0083 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0083 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 65 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0083 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0083 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 66 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0084 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0084 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 67 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0084 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0084 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 68 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0084 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0084 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 69 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0085 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0085 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 70 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0085 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0085 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 71 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0085 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0085 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 72 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0086 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0086 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 73 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0086 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0086 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 74 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0086 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0086 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 75 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0087 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0087 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 76 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0087 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0087 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 77 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0087 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0087 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 78 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0088 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0088 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 79 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0088 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0088 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 80 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0088 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0088 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 81 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 82 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 83 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 84 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0089 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 85 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0090 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0090 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 86 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0090 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0090 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 87 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0090 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0090 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 88 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0091 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0091 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 89 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0091 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0091 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 90 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0091 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0091 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 91 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0092 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0092 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 92 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0092 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0092 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 93 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0093 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0093 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 94 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0093 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0093 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 95 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0093 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0093 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 96 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0094 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0094 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 97 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0094 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0094 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 98 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0094 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0094 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 99 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 100 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 101 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 102 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0095 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 103 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 104 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 105 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 106 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0096 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 107 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0097 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0097 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 108 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0097 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0097 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 109 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0097 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0097 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 110 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0098 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0098 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 111 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0098 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0098 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 112 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0098 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0098 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 113 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0099 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0099 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 114 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0099 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0099 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 115 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0099 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0099 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 116 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0100 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0100 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 117 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0100 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0100 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 118 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0100 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0100 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 119 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0101 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0101 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 120 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0101 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0101 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 121 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0101 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0101 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 122 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0102 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0102 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 123 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0102 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0102 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 124 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0102 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0102 VB work_gtjtuksqxvhelgtzrkw2lkyr2a 367 125 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0102 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0102 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 126 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0103 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0103 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 127 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0103 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0103 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 128 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0103 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0103 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 129 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0104 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0104 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 130 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0104 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0104 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 131 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0104 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0104 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 132 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0105 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0105 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 133 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0105 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0105 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 134 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0105 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0105 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 135 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0106 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0106 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 136 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0106 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0106 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 137 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0106 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0106 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 138 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0107 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0107 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 139 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0107 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0107 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 140 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0107 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0107 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 141 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0108 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0108 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 142 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0108 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0108 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 143 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0108 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0108 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 144 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0109 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0109 VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 367 145 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0109 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0109 VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 367 146 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0110 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0110 PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 147 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0110 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0110 VB work_gtjtuksqxvhelgtzrkw2lkyr2a 367 148 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0110 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0110 VB work_gtjtuksqxvhelgtzrkw2lkyr2a 367 149 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0111 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0111 PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 150 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0111 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0111 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 367 151 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0111 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0111 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 152 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0112 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0112 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 153 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0112 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0112 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 154 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0112 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0112 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 155 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 156 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 367 157 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 367 158 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0113 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 367 159 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 160 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 161 22 22 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 367 162 K. K. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 163 Pelin Pelin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 164 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 367 165 C. C. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 166 Wallgren Wallgren NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 167 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 367 168 Pettersson Pettersson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 367 169 pathological pathological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 170 involvement involvement NN work_gtjtuksqxvhelgtzrkw2lkyr2a 367 171 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 367 172 Delineating delineate VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 367 173 diagnostic diagnostic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 367 174 clues clue NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 367 175 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 368 1 Acta Acta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 368 2 Neuro- Neuro- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 368 3 pathol pathol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 368 4 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 368 5 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 368 6 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 368 7 press press NN work_gtjtuksqxvhelgtzrkw2lkyr2a 368 8 115 115 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 368 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 369 1 Cowling cowl VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 369 2 BS BS NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 369 4 Chevremont Chevremont NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 5 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 369 7 Prokic Prokic NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 8 I I NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 369 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 369 13 Reducing reduce VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 369 14 dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 369 15 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 369 16 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 369 17 rescues rescue VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 369 18 X x NN work_gtjtuksqxvhelgtzrkw2lkyr2a 369 19 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 369 20 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 369 21 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 369 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 369 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 370 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 370 2 Clin Clin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 370 3 Invest Invest NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 370 4 124:1350 124:1350 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 370 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 370 6 1363 1363 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 370 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 370 8 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 370 9 116 116 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 370 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 371 1 Tasfaout Tasfaout NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 2 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 371 4 Buono Buono NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 371 7 Guo Guo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 371 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 371 13 Antisense Antisense NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 14 oligonucleotide oligonucleotide RB work_gtjtuksqxvhelgtzrkw2lkyr2a 371 15 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 371 16 mediated mediate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 371 17 Dnm2 Dnm2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 18 knockdown knockdown JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 371 19 prevents prevent NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 371 20 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 371 21 reverts revert VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 371 22 myotubular myotubular NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 23 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 371 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 371 25 mice mouse NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 371 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 372 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 372 2 Commun Commun NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 372 3 8:15661 8:15661 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 372 4 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 372 5 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 372 6 117 117 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 372 7 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 373 1 Bitoun Bitoun NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 373 4 Maugenre Maugenre NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 5 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 373 7 Jeannet Jeannet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 8 PY PY NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 373 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 373 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 373 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 373 15 dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 373 16 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 373 17 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 373 18 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 373 19 centronuclear centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 20 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 373 21 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 374 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 374 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 374 3 37:1207 37:1207 HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 374 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 374 5 1209 1209 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 374 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 374 7 2005 2005 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 374 8 118 118 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 374 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 375 1 Zuchner Zuchner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 2 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 375 4 Noureddine Noureddine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 375 7 Kennerson Kennerson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 375 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 375 13 Mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 375 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 15 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 375 16 pleck- pleck- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 17 strin strin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 18 homology homology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 19 domain domain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 20 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 21 dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 22 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 375 23 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 24 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 375 25 intermediate intermediate JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 375 26 Charcot Charcot NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 27 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 375 28 Marie Marie NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 29 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 375 30 Tooth Tooth NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 375 31 disease disease NN work_gtjtuksqxvhelgtzrkw2lkyr2a 375 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 376 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 376 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 376 3 37:289 37:289 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 376 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 376 5 294 294 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 376 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 376 7 2005 2005 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 376 8 119 119 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 376 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 377 1 Bohm Bohm NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 377 4 Biancalana Biancalana NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 5 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 377 7 Dechene Dechene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 8 ET ET NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 377 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 377 13 Mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 14 spectrum spectrum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 377 17 large large JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 377 18 GTPase GTPase NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 19 dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 20 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 377 21 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 377 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 377 23 genotype genotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 24 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 377 25 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 26 correlation correlation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 27 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 377 28 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 377 29 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 377 30 centronuclear centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 31 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 377 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 378 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 378 2 Mutat Mutat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 378 3 33:949 33:949 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 378 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 378 5 959 959 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 378 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 378 7 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 378 8 120 120 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 378 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 379 1 Bitoun Bitoun NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 379 4 Bevilacqua Bevilacqua NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 5 JA JA NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 379 7 Prudhon Prudhon NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 8 B B NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 379 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 379 13 Dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 379 14 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 379 15 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 379 16 cause cause VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 17 sporadic sporadic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 379 18 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 379 19 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 379 20 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 379 21 neonatal neonatal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 379 22 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 379 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 380 1 Ann Ann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 380 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 380 3 62:666 62:666 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 380 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 380 5 670 670 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 380 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 380 7 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 380 8 121 121 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 380 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 381 1 Chin Chin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 2 YH YH NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 381 4 Lee Lee NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 5 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 381 7 Kan Kan NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 8 HW HW NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 381 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 381 13 Dynamin-2 Dynamin-2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 381 15 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 16 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 17 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 18 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 19 are be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 20 hypermorphic hypermorphic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 381 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 381 22 lead lead NN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 23 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 24 T t NN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 25 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 381 26 tubule tubule NN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 27 frag- frag- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 381 28 mentation mentation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 381 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 382 1 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 382 2 Mol Mol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 382 3 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 382 4 24:5542 24:5542 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 382 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 382 6 5554 5554 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 382 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 382 8 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 382 9 122 122 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 382 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 383 1 Royer Royer NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 2 B B NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 383 4 Hnia Hnia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 5 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 383 7 Gavriilidis Gavriilidis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 8 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 383 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 383 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 383 13 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 383 14 myotubularin myotubularin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 383 15 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 383 16 amphiphysin amphiphysin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 383 17 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 383 18 complex complex NN work_gtjtuksqxvhelgtzrkw2lkyr2a 383 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 383 20 membrane membrane NN work_gtjtuksqxvhelgtzrkw2lkyr2a 383 21 tubulation tubulation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 383 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 383 23 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 383 24 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 383 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 384 1 EMBO EMBO NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 384 2 Rep Rep NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 384 3 14:907 14:907 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 384 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 384 5 915 915 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 384 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 384 7 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 384 8 123 123 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 384 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 385 1 Nicot Nicot NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 2 AS AS NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 385 4 Toussaint Toussaint NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 5 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 385 7 Tosch Tosch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 8 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 385 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 385 13 Mutations Mutations NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 14 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 385 15 amphiphysin amphiphysin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 385 16 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 385 17 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 385 18 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 19 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 385 20 disrupt disrupt VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 21 interaction interaction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 385 22 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 385 23 dynamin dynamin NN work_gtjtuksqxvhelgtzrkw2lkyr2a 385 24 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 385 25 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 385 26 cause cause NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 27 autosomal autosomal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 28 reces- reces- VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 385 29 sive sive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 385 30 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 385 31 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 385 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 386 1 Nat Nat NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 386 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 386 3 39:1134 39:1134 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 386 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 386 5 1139 1139 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 386 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 386 7 2007 2007 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 386 8 124 124 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 386 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 387 1 Claeys claey NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 387 2 KG KG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 387 4 Maisonobe Maisonobe NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 5 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 387 7 Bohm Bohm NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 8 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 387 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 387 13 Phenotype Phenotype NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 14 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 387 15 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 387 16 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 387 17 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 387 18 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 387 19 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 387 20 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 21 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 387 22 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 387 23 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 387 24 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 387 25 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 387 26 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 388 1 Neurol- Neurol- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 388 2 ogy ogy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 388 3 74:519 74:519 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 388 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 388 5 521 521 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 388 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 388 7 2010 2010 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 388 8 125 125 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 388 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 389 1 Bohm Bohm NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 389 4 Yis Yis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 5 U U NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 389 7 Ortac Ortac NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 8 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 389 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 389 13 Case case NN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 14 report report NN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 16 intrafamilial intrafamilial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 389 17 variability variability NN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 18 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 19 autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 389 20 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 389 21 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 23 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 24 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 25 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 389 26 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 389 27 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 389 28 stop stop VB work_gtjtuksqxvhelgtzrkw2lkyr2a 389 29 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 389 30 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 390 1 Orphanet orphanet NN work_gtjtuksqxvhelgtzrkw2lkyr2a 390 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 390 3 Rare Rare NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 390 4 Dis Dis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 390 5 5 5 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 390 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 390 7 2010 2010 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 390 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 391 1 35 35 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 391 2 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 391 3 1172 1172 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 391 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 391 5 5 5 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 391 6 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 391 7 35 35 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 391 8 126 126 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 391 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 392 1 Bohm Bohm NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 392 4 Vasli Vasli NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 5 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 392 7 Maurer Maurer NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 392 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 392 13 Altered Altered NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 14 splicing splicing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 392 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 392 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 392 17 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 18 muscle- muscle- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 392 19 specific specific JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 392 20 exon exon NN work_gtjtuksqxvhelgtzrkw2lkyr2a 392 21 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 392 22 humans human NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 392 23 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 392 24 dogs dog NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 392 25 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 392 26 highly highly RB work_gtjtuksqxvhelgtzrkw2lkyr2a 392 27 progressive progressive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 392 28 centronu- centronu- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 29 clear clear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 30 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 392 31 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 393 1 PLoS PLoS : work_gtjtuksqxvhelgtzrkw2lkyr2a 393 2 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 393 3 9 9 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 393 4 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 393 5 e1003430 e1003430 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 393 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 393 7 2013 2013 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 393 8 127 127 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 393 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 394 1 Bohm Bohm NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 394 4 Biancalana Biancalana NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 5 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 394 7 Malfatti Malfatti NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 8 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 394 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 394 13 Adult adult NN work_gtjtuksqxvhelgtzrkw2lkyr2a 394 14 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 394 15 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 394 16 autosomal autosomal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 17 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 394 18 cen- cen- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 394 19 tronuclear tronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 394 20 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 21 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 394 22 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 394 23 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 394 24 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 394 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 395 1 Brain Brain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 395 2 137:3160 137:3160 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 395 3 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 395 4 3170 3170 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 395 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 395 6 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 395 7 128 128 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 395 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 396 1 Garibaldi Garibaldi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 396 4 Bohm Bohm NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 5 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 396 7 Fattori Fattori NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 8 F F NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 396 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 396 13 Novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 396 14 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 396 15 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 396 16 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 396 17 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 18 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 396 19 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 396 20 mild mild JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 396 21 centronuclear centronuclear NN work_gtjtuksqxvhelgtzrkw2lkyr2a 396 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 23 revealed reveal VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 396 24 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 396 25 myalgias myalgias NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 26 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 396 27 CK CK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 396 28 elevation elevation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 396 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 397 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 397 2 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 397 3 Dis Dis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 397 4 3:111 3:111 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 397 5 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 397 6 114 114 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 397 7 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 397 8 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 397 9 129 129 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 397 10 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 398 1 Agrawal Agrawal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 2 PB PB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 398 4 Pierson Pierson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 5 CR CR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 398 7 Joshi Joshi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 398 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 398 13 SPEG speg NN work_gtjtuksqxvhelgtzrkw2lkyr2a 398 14 interacts interact VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 398 15 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 398 16 myotubu- myotubu- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 17 larin larin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 398 19 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 398 20 its -PRON- PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 398 21 deficiency deficiency NN work_gtjtuksqxvhelgtzrkw2lkyr2a 398 22 causes cause VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 398 23 centronuclear centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 24 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 398 25 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 398 26 dilated dilate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 398 27 cardiomyopathy cardiomyopathy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 398 28 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 399 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 399 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 399 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 399 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 399 5 95:218 95:218 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 399 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 399 7 226 226 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 399 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 399 9 2014 2014 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 399 10 130 130 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 399 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 400 1 Wang Wang NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 2 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 400 4 Castiglioni Castiglioni NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 5 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 400 7 Kacar Kacar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 8 Bayram Bayram NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 9 A A NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 10 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 400 11 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 12 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 13 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 400 14 Insights insight NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 400 15 from from IN work_gtjtuksqxvhelgtzrkw2lkyr2a 400 16 genotype- genotype- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 17 phenotype phenotype NN work_gtjtuksqxvhelgtzrkw2lkyr2a 400 18 correlations correlation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 400 19 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 400 20 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 400 21 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 22 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 400 23 causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 400 24 centronu- centronu- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 25 clear clear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 26 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 400 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 401 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 401 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 401 3 27:836 27:836 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 401 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 401 5 842 842 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 401 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 401 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 401 8 131 131 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 401 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 402 1 Majczenko Majczenko NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 2 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 402 4 Davidson Davidson NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 5 AE AE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 402 7 Camelo Camelo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 402 9 Piragua Piragua NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 10 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 402 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 402 15 Dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 402 16 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 402 17 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 402 18 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 402 19 CCDC78 CCDC78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 402 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 402 21 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 402 22 unique unique JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 402 23 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 402 24 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 402 25 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 402 26 prominent prominent JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 402 27 internal internal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 402 28 nuclei nucleus NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 402 29 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 402 30 atypical atypical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 402 31 cores core NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 402 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 403 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 403 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 403 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 403 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 403 5 91:365 91:365 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 403 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 403 7 371 371 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 403 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 403 9 2012 2012 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 403 10 132 132 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 403 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 404 1 Pajusalu Pajusalu NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 2 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 404 4 Talvik Talvik NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 5 I I NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 404 7 Noormets Noormets NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 8 K K NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 404 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 404 13 De De NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 14 novo novo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 15 exonic exonic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 404 16 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 17 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 18 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 404 19 gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 20 leading lead VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 404 21 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 22 exon exon JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 404 23 skipping skipping NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 25 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 404 26 patient patient NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 27 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 28 early early JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 404 29 onset onset NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 30 mus- mus- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 31 cular cular JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 404 32 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 33 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 404 34 fiber fiber NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 35 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 404 36 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 37 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 404 38 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 405 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 405 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 405 3 26:236 26:236 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 405 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 405 5 239 239 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 405 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 405 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 405 8 133 133 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 405 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 406 1 Fiorillo Fiorillo NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 2 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 406 4 Astrea Astrea NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 5 G G NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 406 7 Savarese Savarese NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 8 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 406 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 406 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 406 13 Italian italian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 406 14 network network NN work_gtjtuksqxvhelgtzrkw2lkyr2a 406 15 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 406 16 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 406 17 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 406 18 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 406 19 MYH7-related myh7-relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 406 20 myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 406 21 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 406 22 Clinical clinical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 406 23 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 406 24 histopathological histopathological JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 406 25 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 406 26 imaging image VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 406 27 findings finding NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 406 28 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 406 29 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 406 30 cohort cohort NN work_gtjtuksqxvhelgtzrkw2lkyr2a 406 31 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 406 32 Italian italian JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 406 33 patients patient NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 406 34 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 407 1 Orphanet orphanet NN work_gtjtuksqxvhelgtzrkw2lkyr2a 407 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 407 3 Rare Rare NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 407 4 Dis Dis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 407 5 11 11 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 407 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 407 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 407 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 408 1 91 91 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 408 2 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 408 3 016 016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 408 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 408 5 0476 0476 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 408 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 408 7 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 408 8 134 134 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 408 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 409 1 Willis Willis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 2 T T NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 409 4 Hedberg Hedberg NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 5 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 409 6 Oldfors Oldfors NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 7 C C NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 409 9 Alhaswani Alhaswani NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 10 Z Z NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 409 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 409 15 A a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 409 16 novel novel NN work_gtjtuksqxvhelgtzrkw2lkyr2a 409 17 MYH2 MYH2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 18 muta- muta- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 409 19 tion tion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 409 20 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 409 21 family family NN work_gtjtuksqxvhelgtzrkw2lkyr2a 409 22 members member NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 409 23 presenting present VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 409 24 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 409 25 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 409 26 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 409 28 ophthal- ophthal- JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 409 29 moplegia moplegia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 409 30 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 409 31 facial facial JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 409 32 weakness weakness NN work_gtjtuksqxvhelgtzrkw2lkyr2a 409 33 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 410 1 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 410 2 Neurol Neurol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 410 3 263:1427 263:1427 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 410 4 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 410 5 1433 1433 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 410 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 410 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 410 8 135 135 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 410 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 411 1 Tsabari Tsabari NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 2 R R NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 411 4 Daum Daum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 5 H H NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 411 7 Kerem Kerem NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 8 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 411 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 411 13 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 14 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 15 due due IN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 16 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 17 myo- myo- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 18 sin sin VB work_gtjtuksqxvhelgtzrkw2lkyr2a 411 19 heavy heavy JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 411 20 chain chain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 21 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 411 22 mutation mutation NN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 23 presenting present VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 411 24 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 25 chronic chronic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 411 26 aspiration aspiration NN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 27 pneumo- pneumo- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 28 nia nia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 411 29 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 30 infancy infancy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 411 31 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 412 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 412 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 412 3 27:947 27:947 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 412 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 412 5 950 950 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 412 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 412 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 412 8 136 136 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 412 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 413 1 Pokrzywa Pokrzywa NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 413 4 Norum Norum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 5 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 413 7 Lengqvist Lengqvist NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 8 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 413 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 413 13 Developmental Developmental NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 14 MYH3 MYH3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 413 15 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 16 associated associate VBD work_gtjtuksqxvhelgtzrkw2lkyr2a 413 17 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 18 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 19 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 20 mutant mutant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 413 21 protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 22 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 413 23 reduced reduced JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 413 24 expression expression NN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 25 levels level NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 413 26 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 27 embryonic embryonic JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 413 28 MyHC myhc NN work_gtjtuksqxvhelgtzrkw2lkyr2a 413 29 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 414 1 PLoS plos ADD work_gtjtuksqxvhelgtzrkw2lkyr2a 414 2 One one CD work_gtjtuksqxvhelgtzrkw2lkyr2a 414 3 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 414 4 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 414 5 e0142094 e0142094 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 414 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 414 7 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 414 8 137 137 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 414 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 415 1 Chong Chong NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 2 JX JX NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 415 4 Burrage Burrage NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 5 LC LC NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 415 7 Beck Beck NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 8 AE AE NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 415 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 415 13 Autosomal autosomal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 415 14 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 415 15 dominant dominant JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 415 16 multiple multiple JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 415 17 pterygium pterygium NN work_gtjtuksqxvhelgtzrkw2lkyr2a 415 18 syndrome syndrome NN work_gtjtuksqxvhelgtzrkw2lkyr2a 415 19 is be VBZ work_gtjtuksqxvhelgtzrkw2lkyr2a 415 20 caused cause VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 415 21 by by IN work_gtjtuksqxvhelgtzrkw2lkyr2a 415 22 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 415 23 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 415 24 MYH3 MYH3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 415 25 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 416 1 Am be VBP work_gtjtuksqxvhelgtzrkw2lkyr2a 416 2 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 416 3 Hum Hum NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 416 4 Genet Genet NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 416 5 96:841 96:841 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 416 6 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 416 7 849 849 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 416 8 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 416 9 2015 2015 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 416 10 138 138 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 416 11 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 417 1 Schartner Schartner NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 2 V V NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 417 4 Romero Romero NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 5 NB NB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 417 7 Donkervoort Donkervoort NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 8 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 417 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 417 13 Dihydropyridine Dihydropyridine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 14 recep- recep- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 417 15 tor tor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 417 16 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 417 17 DHPR DHPR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 18 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 417 19 CACNA1S CACNA1S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 20 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 417 21 congenital congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 22 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 417 23 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 418 1 Acta Acta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 418 2 Neuropathol Neuropathol NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 418 3 133:517 133:517 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 418 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 418 5 533 533 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 418 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 418 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 418 8 139 139 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 418 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 419 1 Zaharieva Zaharieva NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 2 IT IT NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 419 4 Thor Thor NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 5 MG MG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 419 7 Oates Oates NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 8 EC EC NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 419 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 419 13 Loss loss NN work_gtjtuksqxvhelgtzrkw2lkyr2a 419 14 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 419 15 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 419 16 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 419 17 function function NN work_gtjtuksqxvhelgtzrkw2lkyr2a 419 18 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 419 19 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 419 20 SCN4A SCN4A NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 419 21 cause cause IN work_gtjtuksqxvhelgtzrkw2lkyr2a 419 22 severe severe JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 419 23 foetal foetal JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 419 24 hypokinesia hypokinesia NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 25 or or CC work_gtjtuksqxvhelgtzrkw2lkyr2a 419 26 ‘ ' `` work_gtjtuksqxvhelgtzrkw2lkyr2a 419 27 classical classical JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 419 28 ’ ' '' work_gtjtuksqxvhelgtzrkw2lkyr2a 419 29 congenital congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 30 myopa- myopa- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 31 thy thy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 419 32 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 420 1 Brain Brain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 420 2 139:674 139:674 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 420 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 420 4 691 691 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 420 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 420 6 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 420 7 140 140 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 420 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 421 1 Gonorazky Gonorazky NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 2 HD HD NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 421 4 Marshall Marshall NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 5 CR CR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 421 7 Al Al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 8 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 421 9 Murshed Murshed NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 10 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 11 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 421 12 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 13 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 14 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 421 15 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 16 myopa- myopa- NN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 17 thy thy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 18 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 19 “ " `` work_gtjtuksqxvhelgtzrkw2lkyr2a 421 20 corona corona NN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 21 ” " '' work_gtjtuksqxvhelgtzrkw2lkyr2a 421 22 fibres fibre NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 421 23 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 421 24 selective selective JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 421 25 muscle muscle NN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 26 atrophy atrophy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 27 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 421 28 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 421 29 craniosynosto- craniosynosto- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 30 sis sis NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 421 31 associated associate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 32 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 33 novel novel JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 421 34 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 421 35 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 421 36 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 421 37 SCN4A. SCN4A. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 422 1 Neuromuscul Neuromuscul NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 422 2 Disord Disord NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 422 3 27:574 27:574 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 422 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 422 5 580 580 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 422 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 422 7 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 422 8 141 141 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 422 9 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 423 1 Mercier merci JJR work_gtjtuksqxvhelgtzrkw2lkyr2a 423 2 S S NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 423 4 Lornage Lornage NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 5 X X NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 423 7 Malfatti Malfatti NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 8 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 423 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 423 13 Expanding expand VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 423 14 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 423 15 spectrum spectrum NN work_gtjtuksqxvhelgtzrkw2lkyr2a 423 16 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 423 17 con- con- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 18 genital genital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 19 myopathy myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 423 20 linked link VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 423 21 to to IN work_gtjtuksqxvhelgtzrkw2lkyr2a 423 22 recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 423 23 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 423 24 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 423 25 SCN4A. SCN4A. NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 424 1 Neurology neurology NN work_gtjtuksqxvhelgtzrkw2lkyr2a 424 2 88:414 88:414 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 424 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 424 4 416 416 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 424 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 424 6 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 424 7 142 142 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 424 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 425 1 Vasli Vasli NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 2 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 425 4 Harris Harris NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 5 E E NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 425 7 Karamchandani Karamchandani NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 8 J J NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 425 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 425 13 Recessive recessive JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 425 14 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 425 15 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 425 16 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 425 17 kinase kinase NN work_gtjtuksqxvhelgtzrkw2lkyr2a 425 18 ZAK ZAK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 425 19 cause cause VB work_gtjtuksqxvhelgtzrkw2lkyr2a 425 20 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 425 21 congenital congenital JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 425 22 myopathy myopathy NN work_gtjtuksqxvhelgtzrkw2lkyr2a 425 23 with with IN work_gtjtuksqxvhelgtzrkw2lkyr2a 425 24 fibre fibre NN work_gtjtuksqxvhelgtzrkw2lkyr2a 425 25 type type NN work_gtjtuksqxvhelgtzrkw2lkyr2a 425 26 disproportion disproportion NN work_gtjtuksqxvhelgtzrkw2lkyr2a 425 27 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 426 1 Brain Brain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 426 2 140:37 140:37 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 426 3 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 426 4 48 48 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 426 5 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 426 6 2017 2017 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 426 7 143 143 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 426 8 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 427 1 Spielmann Spielmann NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 2 M M NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 3 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 427 4 Kakar Kakar NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 5 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 427 7 Tayebi Tayebi NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 8 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 9 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 427 10 et et NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 11 al al NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 12 : : : work_gtjtuksqxvhelgtzrkw2lkyr2a 427 13 Exome Exome NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 14 sequencing sequencing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 15 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 427 16 CRISPR CRISPR NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 17 / / SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 427 18 Cas Cas NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 19 genome genome NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 20 editing editing NN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 21 identify identify NN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 22 mutations mutation NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 427 23 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 24 ZAK ZAK NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 427 25 as as IN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 26 a a DT work_gtjtuksqxvhelgtzrkw2lkyr2a 427 27 cause cause NN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 28 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 29 limb limb NN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 30 defects defect NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 427 31 in in IN work_gtjtuksqxvhelgtzrkw2lkyr2a 427 32 humans human NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 427 33 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 427 34 mice mouse NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 427 35 . . . work_gtjtuksqxvhelgtzrkw2lkyr2a 428 1 Genome genome JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 2 Res Res NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 3 26:183 26:183 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 4 - - SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 428 5 191 191 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 6 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 428 7 2016 2016 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 8 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 9 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0114 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 10 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0115 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0115 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 11 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0115 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0115 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 12 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0115 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0115 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 13 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0116 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0116 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 14 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0116 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0116 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 15 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0116 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0116 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 16 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0117 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0117 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 17 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0117 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0117 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 18 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0118 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0118 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 19 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0118 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0118 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 20 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0118 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0118 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 21 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0119 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0119 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 22 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0119 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0119 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 23 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0119 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0119 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 24 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0120 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0120 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 25 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0120 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0120 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 26 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0120 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0120 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 27 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0121 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0121 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 28 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0121 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0121 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 29 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0121 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0121 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 30 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0122 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0122 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 31 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0122 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0122 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 32 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0122 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0122 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 33 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0123 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0123 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 34 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0123 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0123 SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 428 35 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0123 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0123 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 36 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0124 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0124 NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 37 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0124 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0124 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 38 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0124 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0124 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 39 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0125 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0125 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 40 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0125 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0125 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 41 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0125 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0125 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 42 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0126 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0126 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 43 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0126 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0126 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 44 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0126 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0126 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 45 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0127 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0127 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 46 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0127 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0127 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 47 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0128 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0128 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 48 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0128 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0128 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 49 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0128 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0128 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 50 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0129 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0129 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 51 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0129 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0129 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 52 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0129 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0129 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 53 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0130 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0130 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 54 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0130 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0130 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 55 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0130 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0130 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 56 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0131 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0131 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 57 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0131 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0131 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 58 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0131 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0131 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 59 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0132 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0132 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 60 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0132 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0132 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 61 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0132 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0132 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 62 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0132 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0132 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 63 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0133 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0133 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 64 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0133 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0133 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 65 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0133 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0133 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 66 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0133 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0133 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 67 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0134 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0134 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 68 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0134 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0134 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 69 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0134 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0134 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 70 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0135 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0135 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 71 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0135 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0135 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 72 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0135 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0135 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 73 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0136 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0136 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 74 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0136 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0136 VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 75 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0136 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0136 VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 76 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0137 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0137 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 77 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0137 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0137 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 78 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0137 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0137 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 79 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0138 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0138 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 80 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0138 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0138 PRP$ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 81 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0138 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0138 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 82 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0139 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0139 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 83 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0139 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0139 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 84 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0139 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0139 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 85 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 86 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 87 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 88 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0140 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 89 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0141 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0141 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 90 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0141 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0141 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 91 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0141 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0141 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 92 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0142 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0142 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 93 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0142 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0142 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 94 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0142 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0142 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 95 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0143 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0143 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 96 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0143 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0143 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 97 http://refhub.elsevier.com/S1071-9091(19)30005-1/sbref0143 http://refhub.elsevier.com/s1071-9091(19)30005-1/sbref0143 JJ work_gtjtuksqxvhelgtzrkw2lkyr2a 428 98 Update update NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 99 on on IN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 100 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 101 Genetics Genetics NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 102 of of IN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 103 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 104 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 105 Introduction introduction NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 106 Nemaline Nemaline NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 107 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 108 Including include VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 428 109 Cap Cap NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 110 Myopathy Myopathy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 111 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 428 112 Fiber Fiber NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 113 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 114 Type Type NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 115 Disproportion Disproportion NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 116 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 117 Nebulin Nebulin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 118 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 119 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 120 NEB NEB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 121 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 122 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 123 Skeletal Skeletal NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 124 Muscle Muscle NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 125 Alpha Alpha NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 126 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 127 Actin Actin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 128 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 129 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 130 ACTA1 ACTA1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 131 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 132 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 133 Alpha- Alpha- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 134 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 428 135 Beta Beta NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 136 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 137 Tropomyosin Tropomyosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 138 Genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 139 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 140 TPM3 TPM3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 141 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 428 142 TPM2 TPM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 143 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 144 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 145 Troponin Troponin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 146 T1 T1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 147 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 148 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 149 TNNT1 tnnt1 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 150 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 151 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 152 Cofilin-2 Cofilin-2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 153 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 154 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 155 CFL2 CFL2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 156 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 157 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 158 Leiomodin-3 Leiomodin-3 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 159 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 160 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 161 LMOD3 lmod3 NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 162 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 163 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 164 Myopalladin Myopalladin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 165 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 166 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 167 MYPN MYPN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 168 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 169 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 170 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 171 Repeat- Repeat- NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 172 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 428 173 BTB BTB NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 174 / / SYM work_gtjtuksqxvhelgtzrkw2lkyr2a 428 175 POZ POZ NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 176 Domain Domain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 177 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 178 Containing contain VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 428 179 Protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 180 13 13 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 181 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 428 182 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 183 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 184 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 185 Like Like NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 186 40 40 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 187 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 428 188 the the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 189 Kelch Kelch NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 190 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 191 Like like UH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 192 41 41 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 193 Genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 194 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 195 KBTBD13 KBTBD13 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 196 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 428 197 KLHL40 KLHL40 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 198 , , , work_gtjtuksqxvhelgtzrkw2lkyr2a 428 199 and and CC work_gtjtuksqxvhelgtzrkw2lkyr2a 428 200 KLHL41 KLHL41 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 201 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 202 Core Core NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 203 Myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 204 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 205 Ryanodine Ryanodine NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 206 Receptor receptor NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 207 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 208 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 209 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 210 RYR1 RYR1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 211 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 212 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 213 Selenoprotein Selenoprotein NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 214 N N NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 215 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 216 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 217 SEPN1 sepn1 LS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 218 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 219 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 220 Multiple Multiple NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 221 EGF EGF NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 222 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 223 Like Like NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 224 Domain domain NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 225 10 10 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 226 Gene gene NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 227 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 228 MEGF10 megf10 UH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 229 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 230 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 231 Titin Titin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 232 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 233 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 234 TTN TTN NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 235 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 236 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 237 Myosin Myosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 238 Heavy Heavy NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 239 Chain Chain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 240 7 7 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 241 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 242 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 243 MYH7 MYH7 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 244 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 245 Centronuclear Centronuclear NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 246 Myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 247 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 248 Myotubularin Myotubularin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 249 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 250 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 251 MTM1 MTM1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 252 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 253 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 254 Dynamin Dynamin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 255 2 2 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 256 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 257 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 258 DNM2 DNM2 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 259 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 260 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 261 Bridging Bridging NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 262 Integrator integrator NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 263 1 1 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 264 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 265 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 266 BIN1 BIN1 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 267 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 268 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 269 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 270 Complex Complex NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 271 Locus Locus NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 272 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 273 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 274 SPEG SPEG NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 275 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 276 The the DT work_gtjtuksqxvhelgtzrkw2lkyr2a 428 277 Coiled Coiled NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 278 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 279 Coil Coil NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 280 Domain Domain NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 281 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 282 Containing contain VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 428 283 Protein protein NN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 284 78 78 CD work_gtjtuksqxvhelgtzrkw2lkyr2a 428 285 Gene Gene NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 286 ( ( -LRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 287 CCDC78 CCDC78 NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 288 ) ) -RRB- work_gtjtuksqxvhelgtzrkw2lkyr2a 428 289 Myosin Myosin NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 290 - - HYPH work_gtjtuksqxvhelgtzrkw2lkyr2a 428 291 Related relate VBN work_gtjtuksqxvhelgtzrkw2lkyr2a 428 292 Myopathies Myopathies NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 293 Other Other NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 294 Genes gene NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 295 Causing cause VBG work_gtjtuksqxvhelgtzrkw2lkyr2a 428 296 Congenital Congenital NNP work_gtjtuksqxvhelgtzrkw2lkyr2a 428 297 Myopathies myopathy NNS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 298 Conclusions Conclusions NNPS work_gtjtuksqxvhelgtzrkw2lkyr2a 428 299 References reference NNS