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Article

Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.

Pacing and clinical electrophysiology : PACE - 1 Apr 2024

Blich Miry, Zohar Yaniv, Cohen-Kaplan Victoria, Minkov Irina, Asleh Rabea, Horowitz-Cederboim Smadar, Weiss Karin, Paperna Tamar, Lessick Jonathan, Abadi Sobhi, Khoury Asaad, Gepstein Lior, Suleiman Mahmud, Caspi Oren

Abstract excerpt

INTRODUCTION: Arrhythmogenic cardiomyopathy (AC) is an inherited cardiomyopathy characterized by fibro-fatty replacement of cardiomyocytes, leading to life-threatening ventricular arrhythmia and heart failure. Pathogenic variants of desmoglein2 gene (DSG2) have been reported as genetic etiologies of AC. In contrast, many reported DSG2 variants are benign or variants of uncertain significance. Correct genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38375917
DOI: 10.1111/pace.14950

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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