Skeletal muscle channelopathies

J Neurol. 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5.

Abstract

Ion channelopathies have common clinical features, recurrent patterns of mutations, and almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are associated with mutations in voltage-gated Na(+), K(+), Ca(2+), and Cl(-) channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.

Publication types

  • Review

MeSH terms

  • Humans
  • Ion Channels / genetics
  • Ion Channels / metabolism*
  • Malignant Hyperthermia / genetics
  • Malignant Hyperthermia / metabolism
  • Malignant Hyperthermia / physiopathology
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / genetics
  • Muscular Diseases / metabolism*
  • Muscular Diseases / physiopathology
  • Mutation / genetics
  • Myotonia / genetics
  • Myotonia / metabolism
  • Myotonia / physiopathology
  • Paralysis, Hyperkalemic Periodic / genetics
  • Paralysis, Hyperkalemic Periodic / metabolism
  • Paralysis, Hyperkalemic Periodic / physiopathology
  • Sarcolemma / genetics
  • Sarcolemma / metabolism*

Substances

  • Ion Channels