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MTMI gene mutations in Japanese patients with X-linked myotubular myopathy

✍ Scribed by Ichizo Nishino; Yu-chi Goto; Kiichi Arahata; Ikuya Nonaka


Book ID
117670718
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
266 KB
Volume
7
Category
Article
ISSN
0960-8966

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MTM1 mutations in X-linked myotubular my
✍ Jocelyn Laporte; ValΓ©rie Biancalana; Stephan M. Tanner; Wolfram Kress; Vreni Sch πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 427 KB

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