Question

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Answer 1

Answer:

Myotonia congenita is caused in humans by loss-of-function mutations in the gene CLCN1. This is the gene encoding the protein CLCN1, that forms the ClC-1 chloride channel, critical for the normal function of skeletal muscle cells. This gene is also associated with the condition in horses, goats, and dogs.

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Answer 2

Answer:

Myotonia congenita is caused in humans by loss-of-function mutations in the gene CLCN1.