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Mutation studies in X-linked myotubular myopathy in three Indian families

✍ Scribed by Sunita Bijarnia; Ratna D. Puri; Monika Jain; Neelam Kler; Subimal Roy; J. Andoni Urtizberea; Valerie Biancalana; I. C. Verma


Book ID
107598757
Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
166 KB
Volume
77
Category
Article
ISSN
0019-5456

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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