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

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.

Journal of applied genetics - 1 Dec 2021

Biernacka Elżbieta K, Borowiec Karolina, Franaszczyk Maria, Szperl Małgorzata, Rampazzo Alessandra, Woźniak Olgierd, Roszczynko Marta, Śmigielski Witold, Lutyńska Anna, Hoffman Piotr

Abstract excerpt

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most common cause of the disease, associated with conventional ARVC phenotype. The study aims to evaluate the prevalence of PKP2 variants and examine genotype-phenotype correlation in Polish ARVC cohort. All 56 ARVC patients fulfilling the...

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 Cardiovascular Effects of Exercise

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Plakophilins

Share to Sports injuries and prevention

Share to Stroke Volume

Share to Ventricular Function, Left

Source

Open in PubMed Open full text

Identifiers

PMID: 34191271
DOI: 10.1007/s13353-021-00647-y
PMCID: PMC8571136

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.PMID 34191271Read ↗

Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family.Semantic proximity Read ↗

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.Semantic proximity Read ↗

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

Novel plakophilin2 mutation: three-generation family with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

[Distribution characteristics of PKP2 non-synonymous variations in protein domain and genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy].Semantic proximity Read ↗

Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense MutationsSemantic proximity Read ↗

Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.Semantic proximity Read ↗

Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.Semantic proximity Read ↗

Pleiotropic Phenotypes Associated With PKP2 VariantsSemantic proximity Read ↗

Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy.Semantic proximity Read ↗

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