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CLC-related proteins in diseases

Authored by: Allan H. Bretag , Ma Linlin

Handbook of Ion Channels

Print publication date:  February  2015
Online publication date:  February  2015

Print ISBN: 9781466551404
eBook ISBN: 9781466551428
Adobe ISBN:

10.1201/b18027-47

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Abstract

Proteins of the voltage-gated chloride (Cl) channel and transporter (CLC) family have proven to be unique in their general structure and fascinating in their differing functions and purposes. This knowledge has been painstakingly gained over more than a century largely through what has been able to be deduced from the diseases that occur in the absence of these proteins or when they malfunction. If we exclude the heterogeneous epilepsies and cardiac arrhythmias, which were known since ancient times, myotonia congenita (MC) (Thomsen disease) was the first ion channel disease to be described in detail as a clinical entity (Thomsen, 1876).

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