Clinical, genetic and electrophysiological study of skeletal muscle channelopathies : new insights into myotonia congenita and Andersen-Tawil syndrome
This thesis examines clinical characteristics, molecular genetic aspects and electrophysiological features of two muscle channelopathies - myotonia congenita (MC) and Andersen-Tawil syndrome (ATS). MC is a muscle stiffness disorder caused by mutations in the skeletal muscle chloride channel gene CLC...
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University College London (University of London)
2009
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625241 |