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- Title
Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.
- Authors
Fahlke, C
- Abstract
The muscle Cl- channel, ClC-1, is a member of the ClC family of voltage-gated Cl- channels. Mutations in CLCN1, the gene encoding this channel, cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). The functional characterization of these naturally occurring mutations not only allowed a better understanding of the pathophysiology of myotonia, it also provided important insights into the structure and function of the entire ClC channel family. This review describes recent experiments using a combination of cellular electrophysiology, molecular genetics, and recombinant DNA technology to study the molecular basis of ion permeation and selection in ClC-type chloride channels.
- Publication
Kidney international, 2000, Vol 57, Issue 3, p780
- ISSN
0085-2538
- Publication type
Journal Article
- DOI
10.1046/j.1523-1755.2000.00915.x