Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
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- 1 May 2000
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 25 (1) , 17-19
- https://doi.org/10.1038/75542
Abstract
A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).Keywords
This publication has 12 references indexed in Scilit:
- Genetic Refinement and Physical Mapping of the CMT4B Gene on Chromosome 11q22Genomics, 2000
- Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15Genomics, 1999
- Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathiesHuman Mutation, 1999
- A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheathsNeurology, 1999
- Prediction of the Coding Sequences of Unidentified Human Genes. XIV. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitroDNA Research, 1999
- Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to HumanHuman Molecular Genetics, 1998
- Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)Neurology, 1998
- Hereditary demyelinating neuropathy of infancy: a genetically complex syndromeBrain, 1997
- Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharingHuman Molecular Genetics, 1996
- A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeastNature Genetics, 1996