|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms). (Orphanet Rare Disease Ontology, Orphanet_612)|
|Downloads & Tools|
1 genes/proteins associated with the disease Potassium aggravated myotonia from the curated CTD Gene-Disease Associations dataset.
|SCN4A||sodium channel, voltage gated, type IV alpha subunit||2.88009|