Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Journal of Neurology, Neurosurgery & Psychiatry, 06/12/2012
Murphy SM et al. – Four commonly available genes account for over 90% of all Charcot–Marie–Tooth disease (CMT) molecular diagnoses; a diagnostic algorithm is proposed based on these results for use in clinical practice. Any patient with CMT without a mutation in these four genes or with an unusual phenotype should be considered for referral for an expert opinion to maximise the chance of reaching a molecular diagnosis.