Genetics of neuropathies

Semin Neurol. 2011 Nov;31(5):494-505. doi: 10.1055/s-0031-1299788. Epub 2012 Jan 21.

Abstract

Charcot-Marie-Tooth disease (CMT) encompasses the heritable motor and sensory neuropathies that comprise most of the inherited peripheral neuropathies. Due to the great genetic heterogeneity of the condition, it can be difficult to determine what type of CMT a person has. The major phenotypic features of the CMT subtypes are delineated, as well as recommendations for focused genetic testing.

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Genetic Heterogeneity
  • Genetic Testing
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Mutation