Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

J Neurol. 2015 Aug;262(8):1972-5. doi: 10.1007/s00415-015-7800-x. Epub 2015 Jun 6.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Female
  • Humans
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Muscular Dystrophy, Emery-Dreifuss / physiopathology
  • Mutation
  • Syndrome
  • TRPV Cation Channels / genetics*

Substances

  • TRPV Cation Channels
  • TRPV4 protein, human

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2C
  • Scapuloperoneal myopathy