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X-linked myotubular myopathy: clinical and pathological findings in a family

✍ Scribed by A. Oldfors; M. Kyllerman; J. Wahlström; C. Darnfors; K. G. Henriksson

Book ID
115089966
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
853 KB
Volume
36
Category
Article
ISSN
0009-9163

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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