Population
Humans with pure non-syndromic, non-dystrophic myotonia caused by mutations in the skeletal muscle chloride…
Design
Review
Authors
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CLCN1 mutation mapping informs myotonia diagnosis; leaves open genotype-guided therapies pending clinical validation.
Understanding the functional properties of disease-causing CLCN1 mutations provides insights into the CLC-1 channel and other CLC channels involved in genetic diseases.
Michael Pusch (2002) studied this question.
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