Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

Chin Med J (Engl). 2018 Feb 20;131(4):477-479. doi: 10.4103/0366-6999.225061.
No abstract available

MeSH terms

  • Chloride Channels
  • Humans
  • Mutation*
  • Myotonia Congenita / genetics*
  • NAV1.4 Voltage-Gated Sodium Channel / genetics*
  • Scoliosis / genetics*

Substances

  • Chloride Channels
  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human