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Peripheral neuropathies

Molecular diagnosis of Charcot–Marie–Tooth disease

Nature Reviews Neurology volume 7, pages 305–306 (2011)Cite this article

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Charcot–Marie–Tooth disease (CMT) is a hereditary neuropathy attributed to mutations in more than 30 different genes. A recent study identified the causative mutation in 67% of 787 screened patients with CMT, and the findings raise important issues concerning genetic testing for CMT.

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Figure 1: Flow chart for the molecular diagnosis of Charcot–Marie–Tooth disease.

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Authors and Affiliations

  1. Service of Neurology, University Hospital “Marqués de Valdecilla” (IFIMAV), University of Cantabria (UC), “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), Santander, Spain

    José Berciano

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  1. José Berciano
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Berciano, J. Molecular diagnosis of Charcot–Marie–Tooth disease. Nat Rev Neurol 7, 305–306 (2011). https://doi.org/10.1038/nrneurol.2011.72

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