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A double mutation in a patient with X-linked myotubular myopathy

✍ Scribed by Nobutada Tachi; Naoki Kozuka; Shunzo Chiba; Masanao Miyaji; Isamu Watanabe


Book ID
117590873
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
109 KB
Volume
24
Category
Article
ISSN
0887-8994

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MTM1 mutations in X-linked myotubular my
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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

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