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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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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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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

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Correspondence to Anthony P. Monaco.

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https://doi.org/10.1038/75542

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