Charcot-Marie-Tooth disease

Eur J Hum Genet. 2009 Jun;17(6):703-10. doi: 10.1038/ejhg.2009.31. Epub 2009 Mar 11.


Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity. Population based studies have determined the contributions of the various genes to disease burden enabling evidence-based approaches to genetic testing.

MeSH terms

  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Genotype
  • Humans
  • Mutation
  • Phenotype