Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
β Scribed by Gail E. Herman; Kevin Kopacz; Wei Zhao; Patti L. Mills; Aida Metzenberg; Soma Das
- Book ID
- 102257688
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 301 KB
- Volume
- 19
- Category
- Article
- ISSN
- 1059-7794
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β¦ Synopsis
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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