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Centronuclear myopathy--an inherited neuromuscular disorder. A report of 3 cases.

作者信息

Isaacs H, Badenhorst M E

机构信息

Department of Physiology, University of the Witwatersrand, Johannesburg.

出版信息

S Afr Med J. 1991 Sep 7;80(5):247-50.

PMID:1887355
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.

摘要

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