id author title date pages extension mime words sentences flesch summary cache txt work_wfrrqdllknacbclet2fj2ycape Leland E. Lim β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12 1995.0 9 .pdf application/pdf 8963 1063 69 P-sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limbgirdle muscular dystrophy in several Amish families. (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy. degree of consanguinity and the similar clinical presentation of all Amish LGMD patients, the demonstration of genetic heterogeneity within this community human P-sarcoglycan, a 43 kDa component of the dystrophin-glycoprotein complex, and demonstrate its and is apparently responsible for the muscular dystrophy in all chromosome 4-linked Amish LGMD families Several ESTs encoding peptide sequence fragments of the P-sarcoglycan protein were identified and To determine the tissue-specific expression of p-sarcoglycan, we performed RNA hybridization analysis. h u m a n P-sarcoglycan gene from a panel of hunianrodent somatic cell hybrids containing various combinations of h u m a n chromosomes. kDa dystrophin-associated glycoprotein, we constructright indicates position of p-sarcoglycan protein. ./cache/work_wfrrqdllknacbclet2fj2ycape.pdf ./txt/work_wfrrqdllknacbclet2fj2ycape.txt