Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

Neurology. 2017 Jan 24;88(4):414-416. doi: 10.1212/WNL.0000000000003535. Epub 2016 Dec 21.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Family
  • Humans
  • Infant
  • Male
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / pathology
  • Mutation / genetics*
  • Myotonia Congenita / diagnostic imaging
  • Myotonia Congenita / genetics*
  • Myotonia Congenita / pathology
  • NAV1.4 Voltage-Gated Sodium Channel / genetics*
  • Pedigree

Substances

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