id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_gtjtuksqxvhelgtzrkw2lkyr2a	Katarina Pelin	Update on the Genetics of Congenital Myopathies	2019.0	11	.pdf	application/pdf	10371	1306	36	Currently mutations in at least 27 different genes have been reported to cause a congenital In addition to the "classical" forms of NM, recessive diseasecausing variants in NEB may cause distal nebulin myopathy In TPM2 only 1 recessive homozygous nonsense mutation has been described, causing Escobar syndrome associated patients with mild NM.25 Interestingly, dominant MYPN mutations have been reported to cause dilated, familial hypertrophic cardiac muscle are caused by dominant or recessive mutations in TTN.8 Most of these disorders have adult onset. 4 patients had a congenital myopathy with ophthalmoplegia.134 A novel homozygous frameshift mutation in MYH2 Pelin K, Hilpela P, Donner K, et al: Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. caused by mutations in the nebulin gene may present as a distal myopathy. cell gene MEGF10 cause a recessive congenital myopathy with minicores. gene mutation causing both cores and rods in congenital myopathy. Other Genes Causing Congenital Myopathies	./cache/work_gtjtuksqxvhelgtzrkw2lkyr2a.pdf	./txt/work_gtjtuksqxvhelgtzrkw2lkyr2a.txt