Population
Functional expression system for ClC-1 chloride channels
Comparison
Introduction of G499R and other mutations in… vs Normal ClC-1 channels
Design
Preclinical
Authors
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No immediate clinical implications; extends mechanistic understanding of ClC-1 mutations in myotonia congenita models.
The G499R mutation in the ClC-1 channel causes inverted activation upon hyperpolarization, providing insight into the mechanism of myotonia congenita.
Zhang et al. (2000) studied this question.
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