Charcot-Marie-Tooth disease: a clinico-genetic confrontation

Ann Hum Genet. 2008 May;72(Pt 3):416-41. doi: 10.1111/j.1469-1809.2007.00412.x. Epub 2008 Jan 23.


Charcot-Marie-Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous inherited neuropathies. Here, we review the results of molecular genetic investigations and the clinical and neurophysiological features of the different CMT subtypes. The products of genes associated with CMT phenotypes are important for the neuronal structure maintenance, axonal transport, nerve signal transduction and functions related to the cellular integrity. Identifying the molecular basis of CMT and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, and the processes involved in the normal development and function of the peripheral nervous system. The results of molecular genetic investigations have impact on the appropriate diagnosis, genetic counselling and possible new therapeutic options for CMT patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology*
  • Genes, Dominant
  • Genes, Recessive
  • Hereditary Sensory and Autonomic Neuropathies / genetics
  • Humans