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 (6.3, 6.4, 7.1, 7.2)* Myotonia congenita, autosomal recessive, Becker disease - MCR (6.3, 6.4, 7.1, 7.2)* Myotonia recessive - CLC1 (6.3, 6.4, 7.1, 7.2) |