Format

Send to

Choose Destination
Curr Opin Pharmacol. 2001 Jun;1(3):280-7.

Human muscle voltage-gated ion channels and hereditary disease.

Author information

1
Department of Applied Physiology, Ulm University, Germany. karin.jurkat-rott@medizin.uni-ulm.de

Abstract

Insights in the field of ion channels were made possible by the Nobel-prize-winning patch-clamp technique that enables characterization of channel function, and have greatly been inspired by associated diseases pointing to regions of functional significance. These so-called 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 Na+, K+, Ca2+, and Cl- channels that lead to hypoexcitability (causing periodic paralysis) and to hyperexcitabilty (causing myotonia or susceptibility to malignant hyperthermia).

PMID:
11712752
DOI:
10.1016/s1471-4892(01)00050-9
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center