Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.

The American journal of cardiology - 1 Feb 2013

Lorenzon Alessandra, Beffagna Giorgia, Bauce Barbara, De Bortoli Marzia, Li Mura Ilena E A, Calore Martina, Dazzo Emanuela, Basso Cristina, Nava Andrea, Thiene Gaetano, Rampazzo Alessandra

Abstract excerpt

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by fibrofatty replacement of the myocardium and ventricular arrhythmias, associated with mutations in the desmosomal genes. Only a missense mutation in the DES gene coding for desmin, the intermediate filament protein expressed by cardiac and skeletal muscle cells, has been recently associated with ARVC. We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arrhythmogenic Right Ventricular Dysplasia
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Desmin

Share to DNA Mutational Analysis

Share to Electrocardiography

Share to Myocardium

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 23168288
DOI: 10.1016/j.amjcard.2012.10.017
PMCID: PMC3554957

Genes

DES

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.PMID 23168288Read ↗

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.Semantic proximity Read ↗

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.Semantic proximity Read ↗

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.Semantic proximity Read ↗

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Desmin mutations in a St. Petersburg cohort of cardiomyopathies.Semantic proximity Read ↗

Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.Semantic proximity Read ↗

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?Semantic proximity Read ↗

Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.Semantic proximity Read ↗

Screening of pathogenic genes in Chinese patients with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, through a Study of an Iranian Family with Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype‒Genotype Correlation AnalysisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.