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

A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

Journal of medical genetics - 1 May 2015

Calore Chiara, De Bortoli Marzia, Romualdi Chiara, Lorenzon Alessandra, Angelini Annalisa, Basso Cristina, Thiene Gaetano, Iliceto Sabino, Rampazzo Alessandra, Melacini Paola

Abstract excerpt

BACKGROUND: Mutations in the cardiac myosin binding protein C (MYBPC3) gene account for a significant proportion of patients affected with hypertrophic cardiomyopathy (HCM). The aim of this study was to evaluate the penetrance and the impact of a frequent founder MYBPC3 mutation on HCM clinical expression and prognosis. METHODS AND RESULTS: Mutation screening of MYBPC3 gene was performed in 97 HCM probands....

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Hypertrophic
Share to Death, Sudden, Cardiac

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

Share to Echocardiography

Share to Founder Effect

Share to Kaplan-Meier Estimate

Share to Patient Outcome Assessment

Share to Penetrance

Source

Identifiers

PMID: 25740977
DOI: 10.1136/jmedgenet-2014-102923

Genes

MYBPC3
SCD

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

A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.PMID 25740977Read ↗

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 ↗

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

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

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.Semantic proximity Read ↗

Hypertrophic cardiomyopathy in MYBPC3 carriers in agingSemantic proximity Read ↗

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic CardiomyopathySemantic proximity Read ↗

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.Semantic proximity Read ↗

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.Semantic proximity Read ↗

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

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.Semantic proximity Read ↗

Targeting the population for gene therapy with MYBPC3.Semantic proximity Read ↗

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