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

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

9 Apr 2010

Abstract excerpt

RATIONALE: The myosin-binding protein C isoform 3 (MYBPC3) variant Arg502Trp has been identified in multiple hypertrophic cardiomyopathy (HCM) cases, but compelling evidence to support or refute the pathogenicity of this variant is lacking. OBJECTIVE: To determine the prevalence, origin and clinical significance of the MYBPC3 Arg502Trp variant. METHODS AND RESULTS: The prevalence of MYBPC3 Arg502Trp was...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Cardiomyopathy and Myosin Studies
Share to Nuclear Structure and Function

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

Source

Identifiers

PMID: 20378854
DOI: 10.1161/circresaha.109.216291

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 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

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp MutationPMID 20378854Read ↗

Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males.Semantic proximity Read ↗

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.Semantic proximity Read ↗

Pathogenic <i>MYBPC3</i> missense variants alter protein-protein interactions within the sarcomereSemantic proximity Read ↗

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.Semantic proximity Read ↗

Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic CardiomyopathySemantic proximity Read ↗

Protein haploinsufficiency drivers identify<i>MYBPC3</i>mutations that cause hypertrophic cardiomyopathySemantic proximity Read ↗

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran.Semantic proximity Read ↗

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.Semantic proximity Read ↗

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.Semantic proximity Read ↗

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