title: Electron microscopical study of a family with myotonia congenita.
abstract: Biopsy specimens of skeletal muscle from a family that had three female siblings with clinical features of recessive-type myotonia congenita were examined by light and electron microscopy. Fibers examined by the former technique appeared normal. Although some variation in size and shape of mitochondria and sarcomere fragmentation were focally observed by electron microscopy in affected members, they were also encounted in those without clinical manifestations. Importantly, no changes in sarcolemma, sarcoplasmic reticulum, or transverse tubular system were encountered. Capillary basement membrane thickness was within normal limits. The evidence strongly suggests that myotonia congenita represents an entity distinct from myotonia dystrophica and that its pathogenesis may be related to a biochemical rather than ultrastructal aberration.
mesh_terms: D000293:Adolescent; D001485:Basement Membrane / Q000648:ultrastructure; D002196:Capillaries / Q000648:ultrastructure; D002648:Child; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000098:blood supply / Q000648:ultrastructure*; D009224:Myotonia Congenita / Q000235:genetics / Q000473:pathology*; D012508:Sarcolemma / Q000648:ultrastructure; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure