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Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

✍ Scribed by Stephan M Tanner; Vreni Schneider; Nick S.T Thomas; Angus Clarke; Lazarus Lazarou; Sabina Liechti-Gallati

Book ID
117670988
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
132 KB
Volume
9
Category
Article
ISSN
0960-8966

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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

Confirmation of prenatal diagnosis resul
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
✍ Stephan M. Tanner; Jocelyn Laporte; Christophe Guiraud-Chaumeil; Sabina Liechti- πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 226 KB πŸ‘ 2 views

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