Gene table: search width pubmed_id = 2722193


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myotonia, dominant (Thomsen disease) - (AD)
6.3
1379744
2722193
7981750
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
* Myotonia recessive - CLC1
* Myotonia congenita, autosomal dominant, Thomsen disease - THD
* Myotonia congenita, autosomal recessive, Becker disease - MCR