title: Centronuclear myopathy--an inherited neuromuscular disorder. A report of 3 cases.
abstract: Three patients with the adult form of centronuclear myopathy are presented. The slow progression of this disorder is confirmed. The investigations included muscle and sural nerve biopsies. The electron microscopic findings in the muscle of these patients are unique, as are the results of histological examination and histochemical tests. The sural nerve studies were within normal limits. Insulin estimations in response to glucose loading were normal, which largely negates the possibility of an insulin-receptor defect in this disorder.
authors.affiliation: Department of Physiology, University of the Witwatersrand, Johannesburg.
authors.forename: H
authors.initials: H
authors.lastname: Isaacs
authors.forename: M E
authors.initials: ME
authors.lastname: Badenhorst
mesh_terms: D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000150:complications; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*