Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy

Ann Neurol. 1979 Jun;5(6):515-22. doi: 10.1002/ana.410050604.

Abstract

A kindred of 68 French Acadians who were heterozygous for a dominant gene of Charcot-Marie-Tooth disease associated with peripheral nerve hypertrophy are described. Marriage between 2 heterozygotes resulted in 2 homozygous offspring. Clinical features of the homozygotes were similar to the classic description of Dejerine-Sottas disease. Laboratory studies in this family revealed no chemical, metabolic, or chromosomal abnormalities in either the homozygotes or the heterozygotes.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology
  • Female
  • Genes, Dominant*
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Muscular Atrophy / genetics*
  • Neural Conduction