Key result
ClC-1 chloride channel mutations displayed variable effects on voltage dependence, with dominant mutations imparting a significant voltage shift on mutant-wild-type heteromeric channels.
Population
Xenopus oocyte expression system expressing ClC-1 muscle chloride channel mutations
Comparison
Expression of mutant ClC-1 channels vs Wild-type ClC-1 channels
Design
Preclinical
Authors
Loading...
Hypothesis-generating for variable myotonia congenita penetrance; human validation required before clinical translation.
The voltage dependence of mutant heteromeric ClC-1 channels is not always intermediate between constituent homomeric subunits, correlating with variable clinical penetrance in myotonia congenita.
Kubisch et al. (1998) studied Myotonia congenita. ClC-1 chloride channel mutations vs. Wild-type ClC-1 was evaluated on Voltage dependence and channel properties. ClC-1 chloride channel mutations displayed variable effects on voltage dependence, with dominant mutations imparting a significant voltage shift on mutant-wild-type heteromeric channels.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: