Literature DB >> 1887355

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

H Isaacs1, M E Badenhorst.   

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.

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Year:  1991        PMID: 1887355

Source DB:  PubMed          Journal:  S Afr Med J


  2 in total

Review 1.  The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Authors:  C Wallgren-Pettersson; A Clarke; F Samson; M Fardeau; V Dubowitz; H Moser; T Grimm; R J Barohn; P G Barth
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

Review 2.  Centronuclear (myotubular) myopathy.

Authors:  Heinz Jungbluth; Carina Wallgren-Pettersson; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2008-09-25       Impact factor: 4.123

  2 in total

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