Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Neurology. 2012 Jul 10;79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Exome / genetics*
  • Humans
  • Mutation / genetics*
  • Pedigree
  • TRPV Cation Channels / genetics*

Substances

  • TRPV Cation Channels
  • TRPV4 protein, human