TY  - JOUR
AU  - Coote, David J
AU  - Davis, Mark R
AU  - Cabrera, Macarena
AU  - Needham, Merrilee
AU  - Laing, Nigel G
AU  - Nowak, Kristen J
PY  - 2018
DO  - 10.1038/s41431-017-0065-3
UR  - http://hdl.handle.net/10668/12394
T2  - European journal of human genetics : EJHG
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...
LA  - en
PB  - Nature Publishing Group
KW  - Genetic testing
KW  - Neuromuscular disease
KW  - Chromosome Disorders
KW  - Genes, Dominant
KW  - Humans
KW  - Myotonia Congenita
KW  - Pedigree
TI  - Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
TY  - research article
VL  - 26
ER  -