Potassium aggravated myotonia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/608390
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Genes

1 genes associated with the Potassium aggravated myotonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SCN4A sodium channel, voltage gated, type IV alpha subunit