Abstract
Defects of skeletal muscle sodium channel gene, SCN4A, are responsible for several forms of non-dystrophic myotonia. Hitherto, all of the disease mutations of SCN4A are located in coding regions and the mutated channels show gain of function defect, disruption of fast inactivation and/or enhancement of activation. We found a patient with myotonia caused by aberrantly spliced channel due to a mutation located at an intron of SCN4A. Furthermore, the electrophysiological analysis of the mutant channel revealed gain of function defect, disruption of fast inactivation.
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