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- Title
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
- Authors
Bolino, Alessandra; Muglia, Maria; Conforti, Francesca Luisa; LeGuern, Eric; Salih, Mustafa A.M.; Georgiou, Domna-Maria; Christodoulou, Kyproula; Hausmanowa-Petrusewicz, Irena; Mandich, Paola; Schenone, Angelo; Gambardella, Antonio; Bono, Franco; Quattrone, Aldo; Devoto, Marcella; Monaco, Anthony 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).
- Subjects
GENE mapping; CHARCOT-Marie-Tooth disease; CHROMOSOMES; GENETICS
- Publication
Nature Genetics, 2000, Vol 25, Issue 1, p17
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/75542