A V139M mutation also causes the reversible CNS phenotype in CMTX

Can J Neurol Sci. 2008 Jul;35(3):372-4. doi: 10.1017/s0317167100008994.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Brain / pathology*
  • Brain Diseases / etiology
  • Brain Diseases / genetics
  • Brain Diseases / pathology*
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Chromosomes, Human, X / genetics*
  • Connexins / genetics*
  • Gap Junction beta-1 Protein
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Nerve Fibers, Myelinated / pathology
  • Phenotype
  • Point Mutation*
  • Remission, Spontaneous

Substances

  • Connexins