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
β¦ LIBER β¦
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy
β Scribed by Ichizo Nishino; Narihiro Minami; Osamu Kobayashi; Makoto Ikezawa; Yu-ichi Goto; Kiichi Arahata; Ikuya Nonaka
- Book ID
- 117670976
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 107 KB
- Volume
- 8
- Category
- Article
- ISSN
- 0960-8966
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