A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family memeber had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles.

Publication year:2011

Keywords:myotonia, cold-aggravated, SCN4A, sodium channel, p.Arg1460Gln