Population
Mammalian cell (human embryonic kidney 293) expression system
Comparison
Expression of five CLCN1 missense mutations vs Normal/wild-type ClC-1 channels
Design
Preclinical
Authors
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May underlie myotonia congenita via CLCN1 channel dysfunction; hypothesis-generating for targeted therapies pending human studies.
CLCN1 missense mutations associated with myotonia congenita impair skeletal muscle voltage-gated chloride channels by shifting their voltage dependence of open probability.
Zhang et al. (2000) studied this question.
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