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- Title
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
- Authors
Bolino, A; Muglia, M; Conforti, F L; LeGuern, E; Salih, M A; Georgiou, D M; Christodoulou, K; Hausmanowa-Petrusewicz, I; Mandich, P; Schenone, A; Gambardella, A; Bono, F; Quattrone, A; Devoto, M; Monaco, A P
- 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).
- Publication
Nature genetics, 2000, Vol 25, Issue 1, p17
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/75542