Muscle MRI in TRPV4-related congenital distal SMA

Neurology. 2012 Jan 31;78(5):364-5. doi: 10.1212/WNL.0b013e318245295a.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Electromyography
  • Female
  • Humans
  • Male
  • Muscle, Skeletal / pathology
  • Mutation / physiology
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Spinal Muscular Atrophies of Childhood / pathology*
  • TRPV Cation Channels / genetics*

Substances

  • TRPV Cation Channels
  • TRPV4 protein, human