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Key points
Paramyotonia congenita is a hereditary channelopathy caused by missense mutations in the SCN4A gene, which encodes the α subunit of the human skeletal muscle voltage‐gated sodium channel NaV1.4.
Affected individuals suffered from myotonia and paralysis of muscles, which were aggravated by exposure to cold.
We report a three‐generation Chinese family with patients presenting paramyotonia...
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