| Literature DB >> 10802647 |
A Bolino1, M Muglia, F L Conforti, E LeGuern, M A Salih, D M Georgiou, K Christodoulou, I Hausmanowa-Petrusewicz, P Mandich, A Schenone, A Gambardella, F Bono, A Quattrone, M Devoto, A P Monaco.
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).Entities:
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Year: 2000 PMID： 10802647 DOI： 10.1038/75542
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330