%0 Journal Article
%A Coote, David J
%A Davis, Mark R
%A Cabrera, Macarena
%A Needham, Merrilee
%A Laing, Nigel G
%A Nowak, Kristen J
%T Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
%D 2018
%U http://hdl.handle.net/10668/12394
%X 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.
%K Genetic testing
%K Neuromuscular disease
%~