MTM1 mutations in X-linked myotubular my
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Jocelyn Laporte; Valรฉrie Biancalana; Stephan M. Tanner; Wolfram Kress; Vreni Sch
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Article
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2000
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John Wiley and Sons
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English
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X-linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene. This gene encodes a dual-specificity phosphatase named myotubularin, defining a large gene family highly conserved through evolution (which includes the putative anti-phosph