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June 2016

Precision Medicine for Charcot-Marie-Tooth Disease

Author Affiliations
  • 1Department of Neurology, University of California–Davis School of Medicine, Sacramento
JAMA Neurol. 2016;73(6):623-624. doi:10.1001/jamaneurol.2016.0285

In this issue of JAMA Neurology, Cornett et al1 analyze clinical disability in 520 children and adolescents aged 3 to 20 years with Charcot-Marie-Tooth disease (CMT). Approximately half of the cohort had CMT type 1A (CMT1A), with the remainder distributed roughly equally between rarer forms of CMT and nonidentified genetic deficits. Details of the genetic evaluations of these children are not provided, but it is likely that whole-exome sequencing would substantially diminish numbers in the category of those with unknown genetic deficits.2

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