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Title: [Myotubular or centronuclear myopathy; report of a case and review of the literature]. Author: Pereira de Sousa R, Miranda D, Perpetuo FO, Campos GB, Vuletin JC. Journal: Arq Neuropsiquiatr; 1977 Sep; 35(3):247-59. PubMed ID: 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.[Abstract] [Full Text] [Related] [New Search]