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Article

Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy.

European journal of medical genetics - 1 Oct 2013

Campuzano Oscar, Alcalde Mireia, Berne Paola, Zorio Esther, Iglesias Anna, Navarro-Manchón Josep, Brugada Josep, Brugada Ramon

Abstract excerpt

INTRODUCTION: Arrhythmogenic right ventricular cardiomyopathy is an inherited disease characterized by a progressive myocardium fibrofatty replacement. This abnormality disrupts electrical transmission causing ventricular arrhythmias and sudden cardiac death. This genetic disease is transmitted mainly with an autosomal dominant pattern. Our aim was to identify the genetic defect responsible for the pathology in a...

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PMID: 23954618
DOI: 10.1016/j.ejmg.2013.08.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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