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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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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DOI: https://doi.org/10.1038/nrneurol.2011.72
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