ENS TEACHING REVIEW

Journal of Neurology

, Volume 249, Issue 11, pp 1493-1502

First online:

Skeletal muscle channelopathies

  • Karin Jurkat-RottAffiliated withDepartment of Applied Physiology, University of Ulm, 89069 Ulm, Germany
  • , Holger LercheAffiliated withDepartment of Applied Physiology, University of Ulm, 89069 Ulm, Germany
  • , Frank Lehmann-HornAffiliated withDepartment of Applied Physiology, University of Ulm, 89069 Ulm, Germany

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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+, Ca2+, and Cl channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.

Key words ionchannels hereditary diseases sodium potassium calcium chloride