Article
Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization.
Neurology - 28 Jan 2003
Péréon Y, Lande G, Demolombe S, Nguyen The Tich S, Sternberg D, Le Marec H, David A
Abstract excerpt
Paramyotonia congenita (PC) is linked to mutations of the skeletal muscle voltage-gated sodium channel alpha-subunit gene SCN4A. The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram. They demonstrate that the SCN4A alpha-subunit gene is expressed in normal human heart. Cardiac consequences of mutations...
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