Centronuclear myopathy.
Centronuclear myopathy occurring sporadically in two African female children is reported, with details of clinical history and histological, histochemical, and ultrastructural findings, and a review of 58 previously reported cases. In spite of distinctive histological features, the clinical presentation of this condition is variable, there are different modes of inheritance, and the pathogenesis remains unclear.
D000293:Adolescent; D002467:Cell Nucleus / Q000648:ultrastructure; D002648:Child; D004576:Electromyography; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009210:Myofibrils / Q000648:ultrastructure; D013577:Syndrome