Myotonia in centronuclear myopathy.
Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.
D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D009132:Muscles / Q000378:metabolism / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009222:Myotonia / Q000175:diagnosis; D009223:Myotonic Dystrophy / Q000175:diagnosis; D013577:Syndrome
D000251:Adenosine Triphosphatases