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A Mutation in the MTM1 Gene Invalidates a Previous Suggestion of Nonallelic Heterogeneity in X-Linked Myotubular Myopathy

✍ Scribed by C. GUIRAUD-CHAUMEIL; M.C. VINCENT; J. LAPORTE; M. FARDEAU; F. SAMSON; J.-L. MANDEL


Book ID
117012829
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
302 KB
Volume
60
Category
Article
ISSN
0002-9297

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X-linked myotubular myopathy (XLMTM) is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness, leading in most cases to early postnatal death. The gene responsible for the disease, MTM1, encodes a dual specificity phosphatase, named myotubularin, which is hi