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
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