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MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy

✍ 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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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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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