A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female

Ann N Y Acad Sci. 1999 Sep 14:883:481-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Chromosome Mapping
  • Connexins / genetics*
  • Female
  • Gap Junction beta-1 Protein
  • Heterozygote
  • Humans
  • Point Mutation
  • X Chromosome*

Substances

  • Connexins