Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
- Bolino, A
- Muglia, M
- Conforti, F
- LeGuern, E
- Salih, M
- Georgiou, D
- Christodoulou, K
- Hausmanowa-Petrusewicz, I
- Mandich, P
- Schenone, A
- Gambardella, A
- Bono, F
- Quattrone, A
- Devoto, M
- Monaco, A
DOIAbstract
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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