Familial centronuclear myopathy.
A girl with typical clinical and histologic features of centronuclear myopathy (CNM) is described. The electromyogram was clearly of myopathic type; the motor conduction velocity was reduced. The analysis of the pedigree, in which three other members were similarly affected, suggests autosomal dominant inheritance with low penetrance.
D001763:Blepharoptosis / Q000235:genetics; D002467:Cell Nucleus / Q000648:ultrastructure; D002648:Child; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009132:Muscles / Q000503:physiopathology / Q000648:ultrastructure; D009886:Ophthalmoplegia / Q000235:genetics; D010375:Pedigree