Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
CLCN1
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)




7q35
* Myotonia congenita, autosomal dominant, Thomsen disease - THD (6.4, 6.5, 7.1, 7.2)
* Myotonia congenita, autosomal recessive, Becker disease - MCR (6.4, 6.5, 7.1, 7.2)
* Myotonia recessive - CLC1 (6.4, 6.5, 7.1, 7.2)