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
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
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