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

Nature Genetics volume 25, pages 17–19 (2000)Cite this article

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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Figure 1: MTMR2 mutations in CMT4B patients.

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Acknowledgements

We thank H. Jedrzejowska and B. Ryniewicz for providing the Polish CMT family. A.B. is supported by a post-doctoral fellowship of the Italian Telethon. A.P.M. is a Wellcome Trust Principal Researh Fellow.

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Authors and Affiliations

  1. Wellcome Trust Centre for Human Genetics, Oxford, UK

    Alessandra Bolino & Anthony P. Monaco

  2. Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone, Cosenza, Italy

    Maria Muglia, Francesca Luisa Conforti & Aldo Quattrone

  3. Hôpital de la Salpêtrière, Paris Cedex, France

    Eric LeGuern

  4. Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia

    Mustafa A.M. Salih

  5. Molecular Genetics Unit D, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    Domna-Maria Georgiou & Kyproula Christodoulou

  6. Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

    Irena Hausmanowa-Petrusewicz

  7. IBIG, Facoltà di Medicina,

    Paola Mandich

  8. Dipartimento di Scienze Neurologiche e della Riabilitazione,

    Angelo Schenone

  9. Dipartimento di Oncologia, Biologia, e Genetica, Università di Genova, Genova, Italy

    Marcella Devoto

  10. Institute of Neurology, University of Catanzaro, Catanzaro, Italy

    Antonio Gambardella, Franco Bono & Aldo Quattrone

Authors
  1. Alessandra Bolino
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  2. Maria Muglia
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  6. Domna-Maria Georgiou
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  7. Kyproula Christodoulou
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  10. Angelo Schenone
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  11. Antonio Gambardella
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  12. Franco Bono
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  14. Marcella Devoto
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  15. Anthony P. Monaco
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Correspondence to Anthony P. Monaco.

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Bolino, A., Muglia, M., Conforti, F. et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25, 17–19 (2000). https://doi.org/10.1038/75542

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