Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability

J Neurol. 2006 Feb;253(2):263-4. doi: 10.1007/s00415-005-0955-0. Epub 2005 Aug 17.
No abstract available

Publication types

  • Comparative Study
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aspartic Acid / genetics
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, X*
  • Codon, Terminator / genetics
  • Connexins / genetics*
  • DNA Mutational Analysis / methods
  • Family Health
  • Female
  • Gap Junction beta-1 Protein
  • Humans
  • Leucine / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Phenotype*
  • Phenylalanine / genetics
  • Proline / genetics
  • Serine / genetics
  • Tyrosine / genetics
  • Valine / genetics

Substances

  • Codon, Terminator
  • Connexins
  • Aspartic Acid
  • Tyrosine
  • Serine
  • Phenylalanine
  • Proline
  • Leucine
  • Valine