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Article

Phenotype variability in patients carrying KCNJ2 mutations.

Circulation. Cardiovascular genetics - 1 Jun 2012

Kimura Hiromi, Zhou Jun, Kawamura Mihoko, Itoh Hideki, Mizusawa Yuka, Ding Wei-Guang, Wu Jie, Ohno Seiko, Makiyama Takeru, Miyamoto Akashi, Naiki Nobu, Wang Qi, Xie Yu, Suzuki Tsugutoshi, Tateno Shigeru, Nakamura Yoshihide, Zang Wei-Jin, Ito Makoto, Matsuura Hiroshi, Horie Minoru

Abstract excerpt

BACKGROUND: Mutations of KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features. However, some KCNJ2 mutation carriers lack the ATS triad and sometimes share the phenotype of catecholaminergic polymorphic ventricular tachycardia (CPVT). We investigated clinical and...

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Share to Andersen Syndrome
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Polymorphic Catecholaminergic Ventricular Tachycardia

Share to Potassium Channels, Inwardly Rectifying

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Share to Tachycardia, Ventricular

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Source

Identifiers

PMID: 22589293
DOI: 10.1161/CIRCGENETICS.111.962316

Genes

KCNJ2

Provenance

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

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Phenotype variability in patients carrying KCNJ2 mutations.PMID 22589293Read ↗

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