A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features

J Neurol. 2004 Feb;251(2):222-3. doi: 10.1007/s00415-004-0284-8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Chromosomes, Human, X / genetics
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Female
  • Gap Junction beta-1 Protein
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology*
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Neural Conduction / genetics
  • Pedigree
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Protein Structure, Tertiary / genetics
  • Valine / genetics

Substances

  • Connexins
  • Valine