Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenital

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Sequencing of CLCN1, the gene that encodes the skeletal muscle chloride channel CLC-1, is the gold standard for the diagnosis of myotonia congenita (MC) a condition that presents with compromised muscle relaxation. Loss-of-function mutations in CLCN1 underlie both the recessive and dominant form of MC. Predicting pathogenicity and inheritance pattern of a novel CLCN1 variant is difficult based on the genetic data alone. Characterizing functional properties of CLC-1 mutant channels is used to improve the accuracy of these predictions.

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