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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 |
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| 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 |
| Affiliation: | Wellcome Trust Centre for Human Genetics, Oxford, UK. |
| 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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