A Case Study: Myotubular Myopathy
نویسندگان
چکیده
............................................................................................................... 3 Abbreviations ........................................................................................................ 3 Introduction ........................................................................................................... 3 Discussion ............................................................................................................. 5 Three Different Types of MTM 5 Symptoms of X-Linked Recessive MTM 7 A Case Study: Nathaniel Joseph Supleo-Tordesillas 8 Research Efforts 12 References ............................................................................................................ 14
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Myotubular myopathy associated with cataract and electrical myotonia.
A case of myotubular myopathy is described which is unusual because of bilateral cataracts and prominent myotonic-like discharges on the EMG. The significance of these findings is discussed in relation to dystrophia myotonica.
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