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

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.

International journal of cardiology - 20 Jul 2005

García-Castro Mónica, Reguero Julián R, Alvarez Victoria, Batalla Alberto, Soto María Isabel, Albaladejo Vicente, Coto Eliecer

Abstract excerpt

Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are responsible for up to 50% of familial cases with hypertrophic cardiomyopathy (HC). Compared to patients with mutations in other sarcomeric genes, patients with MYBPC3 mutations would have a milder form of the disease, with a lower incidence of sudden cardiac death. Because most of the mutations have been found in only one family, it is currently...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Case-Control Studies

Share to Homozygote

Share to Polymerase Chain Reaction

Share to Ventricular Myosins

Source

Identifiers

PMID: 16004897
DOI: 10.1016/j.ijcard.2004.05.060

Genes

MYBPC3

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

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.PMID 16004897Read ↗

Selected mutations in the myosin binding protein C gene in the Polish population of patients 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 ↗

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

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.Semantic proximity Read ↗

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.Semantic proximity Read ↗

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

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.Semantic proximity Read ↗

A new mutational mechanism for hypertrophic cardiomyopathy.Semantic proximity Read ↗

Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.Semantic proximity Read ↗

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

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