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. 2000 May;25(1):17-9.
doi: 10.1038/75542.

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

A Bolino  1 , 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
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

A Bolino et al. 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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