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Article

Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.

Cardiology - 1 Jan 2011

Modoni Anna, Bianchi Maria Laura Ester, Vitulano Nicola, Pagliarani Serena, Perna Francesco, Sanna Tommaso, Rizzo Valentina, Silvestri Gabriella

Abstract excerpt

The Andersen-Tawil syndrome (ATS) is characterized by hypo-normokaliemic muscle periodic paralysis, dysmorphic features and ventricular arrhythmias. Most cases are caused by mutations in KCNJ2, encoding for the potassium inwardly rectifying channel, Kir2.1 (ATS1). Although KCNJ2 mutations show no obvious genotype-phenotype correlations and incomplete penetrance, signs of cardiac involvement are usually present in...

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Source

Identifiers

PMID: 22286118
DOI: 10.1159/000335529

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.PMID 22286118Read ↗

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Andersen-Tawil Syndrome: A Comprehensive Review.Semantic proximity Read ↗

Management and treatment of Andersen-Tawil syndrome (ATS).Semantic proximity Read ↗

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Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.Semantic proximity Read ↗

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