Pereira de Sousa R, Miranda D, Perpetuo F O, Campos G B, Vuletin J C
Arq Neuropsiquiatr. 1977 Sep;35(3):247-59.
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.
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。