Key result
Expression of ClC-1 mutations in Xenopus oocytes showed G200R shifted voltage dependence by ~65 mV, and M485V reduced single channel conductance from 1.5 pS (WT) to ~0.3 pS.
Population
Xenopus oocytes expressing muscular voltage-dependent Cl-channel mutations
Comparison
Expression of mutant ClC-1 channels vs Wild-type (WT) ClC-1 channels
Design
Preclinical
Authors
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Mechanistic effects of ClC-1 mutations in oocytes extend structure-function knowledge; leaves open clinical translation to myotonic disorders.
Functional analysis of ClC-1 mutations in Xenopus oocytes identifies new regions of the protein involved in voltage dependence and ion permeation, explaining the phenotype of some, but not all, myotonic mutations.
Wollnik et al. (1997) studied recessive and dominant myotonia. ClC-1 mutations (G200R, Y150C, Y261C, M485V) vs. WT ClC-1 channels was evaluated on electrophysiological properties (open probability, single channel conductance). Expression of ClC-1 mutations in Xenopus oocytes showed G200R shifted voltage dependence by ~65 mV, and M485V reduced single channel conductance from 1.5 pS (WT) to ~0.3 pS.
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