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- W2212346078 abstract "X-linked myotubular myopathy (MTM; OMIM 310400) is a severe congenital myopathy that is classified as one of the centronuclear myopathies (1). MTM is estimated to affect 1/50,000 live born males and is due to loss of function mutations in MTM1 , which encodes myotubularin, a ubiquitously expressed lipid phosphatase (2,3). The function of myotubularin is still not entirely clear, but a picture is starting to emerge in which myotubularin is a critical maintenance protein of the myofiber sarcotubular system and has a role in excitation-contraction coupling (4-7)." @default.
- W2212346078 created "2016-06-24" @default.
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- W2212346078 date "2015-04-01" @default.
- W2212346078 modified "2023-09-27" @default.
- W2212346078 title "Gene therapy in myotubular myopathy: promising progress and future directions." @default.
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- W2212346078 doi "https://doi.org/10.3978/j.issn.2305-5839.2015.01.11" @default.
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