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Article

Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.

Journal of translational medicine - 20 Apr 2017

Chen Yanhong, Barajas-Martinez Hector, Zhu Dongxiao, Wang Xihui, Chen Chonghao, Zhuang Ruijuan, Shi Jingjing, Wu Xueming, Tao Yijia, Jin Weidong, Wang Xiaoyan, Hu Dan

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) patients with early repolarization (ER) pattern are at higher risk of ventricular arrhythmia, yet the genetic background of this situation has not been well investigated. Here we report novel trigenic mutations detected in a Chinese family of obstructive HCM with ER and short QT syndrome (SQTS). METHODS: Proband and family members underwent detailed medical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28427417
DOI: 10.1186/s12967-017-1180-1
PMCID: PMC5399316

Genes

DES
MYPN

Variants

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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