Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease

Nat Rev Neurol. 2011 May 17;7(6):305-6. doi: 10.1038/nrneurol.2011.72.

Abstract

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.

MeSH terms

  • Axons / pathology
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics*
  • Demyelinating Diseases / genetics
  • Demyelinating Diseases / pathology
  • Humans
  • Mutation / genetics
  • Neurologic Examination
  • Peripheral Nervous System Diseases / classification
  • Peripheral Nervous System Diseases / diagnosis*
  • Peripheral Nervous System Diseases / genetics*
  • Phenotype