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Identification of a novel mutation in the MTM1 gene associated with X-linked myotubular myopathy, in a Greek family

✍ Scribed by L. Fidani; P. Karagianni; C. Tsakalidis; G. Mitsiakos; I. Hatziioannidis; V. Biancalana; N. Nikolaidis

Book ID
114359231
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
55 KB
Volume
12
Category
Article
ISSN
1090-3798

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πŸ“œ SIMILAR VOLUMES

Identification of novel mutations in the
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy
✍ Anna Buj-Bello; ValΓ©rie Biancalana; CΓ©line Moutou; Jocelyn Laporte; Jean-Louis M πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 203 KB πŸ‘ 2 views

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

A novel mutation in exon b (R259C) of th
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy
✍ Andrew Donnelly; Eric Haan; James Manson; John Mulley πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 62 KB πŸ‘ 2 views

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