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

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

Anthony P Monaco, Alessandra Bolino, Maria Muglia, Francesca Luisa Conforti, Eric LeGuern, Mustafa A.M Salih, Domna-Maria Georgiou, Kyproula Christodoulou, Irena Hausmanowa-Petrusewicz, Paola Mandich, …
Nature genetics, Vol.25(1), pp.17-19
01/05/2000
DOI: https://doi.org/10.1038/75542
PMID: 10802647

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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