Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Abstract

Myotonia congenita is a genetic disease of skeletal muscle membrane hyperexcitability caused by variants in CLCN1, leading to reduced conductance of the main skeletal muscle chloride channel (ClC-1) [1]. This disorder can be inherited in an autosomal dominant ( Thomsen disease ; sometimes associated with reduced penetrance ) or recessive ( Becker disease ; OMIM 255700) fashion. Thomsen disease is rare and exhibits a high degree of genetic heterogeneity.