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Article

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

BMC medical genetics - 17 Aug 2017

Qadri Sami, Anttonen Olli, Viikilä Juho, Seppälä Eija H, Myllykangas Samuel, Alastalo Tero-Pekka, Holmström Miia, Heliö Tiina, Koskenvuo Juha W

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28818065
DOI: 10.1186/s12881-017-0442-3
PMCID: PMC5561604

Genes

DSG2

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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