Familial megaconial myopathy: a real nosologic entity. Clinical and histopathologic studies in two siblings.
D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree