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).
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Acknowledgements
We thank H. Jedrzejowska and B. Ryniewicz for providing the Polish CMT family. A.B. is supported by a post-doctoral fellowship of the Italian Telethon. A.P.M. is a Wellcome Trust Principal Researh Fellow.
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Bolino, A., Muglia, M., Conforti, F. et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25, 17–19 (2000). https://doi.org/10.1038/75542
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DOI: https://doi.org/10.1038/75542
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