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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

✍ Scribed by Gail E. Herman; Kevin Kopacz; Wei Zhao; Patti L. Mills; Aida Metzenberg; Soma Das


Book ID
102257688
Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
301 KB
Volume
19
Category
Article
ISSN
1059-7794

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✦ Synopsis


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πŸ“œ SIMILAR VOLUMES


Identification of novel mutations in the
✍ 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
✍ 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