Charcot-Marie-Tooth disease: a gene-dosage effect

Hosp Pract (1995). 1997 May 15;32(5):83-4, 89-91, 94-5 passim. doi: 10.1080/21548331.1997.11443485.

Abstract

A broad spectrum of inherited neuropathy has been traced to three myelin genes, yet in the two most common disorders, there is no mutated gene. Instead, a gene has an extra or missing copy, as part of a 1.5-megabase DNA duplication or deletion. Eventually, duplications may emerge as a large fraction of all mutations. The discoveries have implications even for acquired disorders--including carpal tunnel syndrome.

Publication types

  • Review

MeSH terms

  • Carpal Tunnel Syndrome / genetics
  • Charcot-Marie-Tooth Disease / genetics*
  • Crossing Over, Genetic
  • Gene Deletion
  • Humans
  • Multigene Family