Open-access Myotubular or centronuclear myopathy: report of a case and review of the literature

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 our findings is included. Review of the literature disclosed near 50 cases of centronuclear myopathy. The diferential diagnosis is discussed.


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