doi: 10.1038/75542.
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
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- PMID: 10802647
- DOI: 10.1038/75542
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Nat Genet.
2000 May.
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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