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Article

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Human molecular genetics - 1 Dec 2010

Klauke Baerbel, Kossmann Sabine, Gaertner Anna, Brand Kristina, Stork Ines, Brodehl Andreas, Dieding Mareike, Walhorn Volker, Anselmetti Dario, Gerdes Désirée, Bohms Birte, Schulz Uwe, Zu Knyphausen Edzard, Vorgerd Matthias, Gummert Jan, Milting Hendrik

Abstract excerpt

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, frequently accompanied by sudden cardiac death and terminal heart failure. Genotyping of ARVC patients might be used for palliative treatment of the affected family. We genotyped a cohort of 22 ARVC patients referred to molecular genetic screening in our heart center for mutations in the desmosomal candidate genes JUP,...

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Share to Arrhythmogenic Right Ventricular Dysplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden, Cardiac

Share to Desmin

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Share to Fluorescent Antibody Technique

Share to Intermediate Filaments

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Source

Identifiers

PMID: 20829228
DOI: 10.1093/hmg/ddq387

Genes

DSC2
DSG2
DSP
JUP
PKP2

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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