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Nat Genet. 2000 May;25(1):17-9.

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Author information

  • 1Wellcome 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).

PMID:
10802647
[PubMed - indexed for MEDLINE]
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