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X-linked myotubular myopathy: a linkage study

✍ Scribed by Catarina Darnfors; H. E. Börje Larsson; Anders Oldfors; Mårten Kyllerman; Karl-Henrik Gustavson; Gunnar Bjursell; Jan Wahlström


Book ID
115090032
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
321 KB
Volume
37
Category
Article
ISSN
0009-9163

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MTM1 mutations in X-linked myotubular my
✍ Jocelyn Laporte; Valérie Biancalana; Stephan M. Tanner; Wolfram Kress; Vreni Sch 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 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