RT Journal Article
T1 Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
A1 Coote, David J
A1 Davis, Mark R
A1 Cabrera, Macarena
A1 Needham, Merrilee
A1 Laing, Nigel G
A1 Nowak, Kristen J
K1 Genetic testing
K1 Neuromuscular disease
AB 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.
PB Nature Publishing Group
YR 2018
FD 2018-07
LK http://hdl.handle.net/10668/12394
UL http://hdl.handle.net/10668/12394
LA en
NO Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease). Eur J Hum Genet. 2018 Jul;26(7):1072-1077.
DS RISalud
RD Apr 5, 2025