Article
MTM1 mutations in X-linked myotubular myopathy.
Human mutation - 1 Jan 2000
Laporte J, Biancalana V, Tanner S M, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel J L
Abstract excerpt
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...
Topics
- Alternative Splicing
- DNA Transposable Elements
- Female
- Humans
- Male
- Middle Aged
- Multigene Family
- Mutation
- Mutation, Missense
- Myopathies, Structural, Congenital
- Polymorphism, Genetic
- Protein Tyrosine Phosphatases
- Protein Tyrosine Phosphatases, Non-Receptor