title: [Myotubular or centronuclear myopathy; report of a case and review of the literature].
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.
mesh_terms: D000293:Adolescent; D001706:Biopsy; D001763:Blepharoptosis / Q000151:congenital*; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000151:congenital* / Q000175:diagnosis; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis; D009468:Neuromuscular Diseases / Q000151:congenital* / Q000473:pathology
vernacular_title: Miopatia miotubular ou centronuclear; relato de caso e revisão da literatura.