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[肌管性或核中心性肌病;1例报告及文献复习]

[Myotubular or centronuclear myopathy; report of a case and review of the literature].

作者信息

Pereira de Sousa R, Miranda D, Perpetuo F O, Campos G B, Vuletin J C

出版信息

Arq Neuropsiquiatr. 1977 Sep;35(3):247-59.

PMID:901263
Abstract

A case of centronuclear or myotubular myopathy in a 13-year-old boy who was admitted with hypotonia and congenital ptosis is reported. Clinical, electromyographic and pathologic studies are discussed. A review of the electron microscopic features and comparison with out findings is included. Review of the literature disclosed near 50 cases of centronuclear myopathy. The diferential diagnosis is discussed.

摘要

报告了一例13岁男孩的中央核或肌管性肌病,该男孩因肌张力减退和先天性上睑下垂入院。讨论了临床、肌电图和病理学研究。包括对电子显微镜特征的回顾以及与我们的发现进行比较。文献回顾发现了近50例中央核肌病病例。讨论了鉴别诊断。

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