Autosomal dominant monosymptomatic myotonia permanens

Neurology. 2006 Jul 11;67(1):153-5. doi: 10.1212/01.wnl.0000223838.88872.da.

Abstract

Myotonia permanens is associated with a G1306E mutation in the SCN4A gene. Two sporadic patients have been reported, but the clinical phenotype has not been fully characterized. The authors report a family in which the disease is autosomal dominantly inherited. The patients have severe myotonia, but the clinical picture is not qualitatively different from that seen in other nondystrophic myotonias.

Publication types

  • Case Reports

MeSH terms

  • Child
  • DNA Mutational Analysis
  • Electromyography / methods
  • Family Health
  • Glutamic Acid / genetics
  • Glycine / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Myotonia / genetics*
  • Myotonia / pathology
  • Myotonia / physiopathology
  • Myotonia Congenita / genetics*
  • Myotonia Congenita / pathology
  • Myotonia Congenita / physiopathology
  • NAV1.4 Voltage-Gated Sodium Channel
  • Sodium Channels / genetics*

Substances

  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Sodium Channels
  • Glutamic Acid
  • Glycine