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MTM1 mutations in X-linked myotubular myopathy

✍ Scribed by Jocelyn Laporte; Valérie Biancalana; Stephan M. Tanner; Wolfram Kress; Vreni Schneider; Carina Wallgren-Pettersson; Franziska Herger; Anna Buj-Bello; François Blondeau; Sabina Liechti-Gallati; Jean-Louis Mandel

Book ID
101263169
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
427 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

X-linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene. This gene encodes a dual-specificity phosphatase named myotubularin, defining a large gene family highly conserved through evolution (which includes the putative anti-phosphatase Sbf1/hMTMR5). We report 29 mutations in novel cases, including 16 mutations not described before. To date, 198 mutations have been identified in unrelated families, accounting for 133 different disease-associated mutations which are widespread throughout the gene. Most point mutations are truncating, but 26% (35/133) are missense mutations affecting residues conserved in the Drosophila ortholog and in the homologous MTMR1 gene. Three recurrent mutations affect 17% of the patients, and a total of 21 different mutations were found in several independent families. The frequency of female carriers appears higher than expected (only 17% are de novo mutations). While most truncating mutations cause the severe and early lethal phenotype, some missense mutations are associated with milder forms and prolonged survival (up to 54 years).

📜 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; Valérie Biancalana; Céline Moutou; Jocelyn Laporte; Jean-Louis M 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 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- 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 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