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Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

✍ Scribed by Laporte, Jocelyn; Guiraud-Chaumeil, Christophe; Tanner, Stephan M; Blondeau, François; Hu, Ling-Jia; Vicaire, Serge; Liechti-Gallati, Sabina; Mandel, Jean-Louis


Book ID
110024698
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
154 KB
Volume
6
Category
Article
ISSN
1018-4813

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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

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X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations