The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband a
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy
✍ Scribed by Edmar Zanoteli; Jocelyn Laporte; José C.C. Rocha; Christine Kretz; Acary S.B. Oliveira; Jean-Louis Mandel; Ana B.A. Perez; Alberto A. Gabbai; Anna Buj-Bello
- Book ID
- 101448843
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 120 KB
- Volume
- 134A
- Category
- Article
- ISSN
- 1552-4825
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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
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