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Article

Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.

Journal of Korean medical science - 1 Sept 2013

Park Jong Keun, Oh Yong-Seog, Choi Jee-hyun, Yoon Sungjoo Kim

Abstract excerpt

Long QT syndrome (LQTS) is characterized by the prolongation of the QT interval in ECG and manifests predisposition to life threatening arrhythmia which often leads to sudden cardiac death. We encountered a 3-generation family with 5 affected family members in which LQTS was inherited in autosomal dominant manner. The LQTS is considered an ion channel disorder in which the type and location of the genetic...

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Source

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Identifiers

PMID: 24015048
DOI: 10.3346/jkms.2013.28.9.1388
PMCID: PMC3763117

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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