Somatic mosaicism in Charcot-Marie-Tooth type X disease

Neurology. 2004 Jan 27;62(2):336-7. doi: 10.1212/01.wnl.0000103441.52563.02.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • Codon / genetics
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Female
  • Gap Junction beta-1 Protein
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mosaicism*
  • Mutation, Missense

Substances

  • Codon
  • Connexins