A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs

Muscle Nerve. 2011 Oct;44(4):613-5. doi: 10.1002/mus.22156.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Action Potentials / genetics
  • Action Potentials / physiology
  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Connexins / genetics*
  • Female
  • Gap Junction beta-1 Protein
  • Humans
  • Italy
  • Mutation / genetics*
  • Neural Conduction / genetics
  • Neural Conduction / physiology
  • Peripheral Nerves / physiopathology

Substances

  • Connexins