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

[High-risk hypertrophic cardiomyopathy associated with a novel mutation in cardiac Myosin-binding protein C].

Revista espanola de cardiologia - 1 Mar 2007

García-Pavía Pablo, Segovia Javier, Molano Jesús, Mora Roberto, Kontny Frederic, Erik Berge Knut, Leren Trond P, Alonso-Pulpón Luis

Abstract excerpt

Hypertrophic cardiomyopathy is an autosomal dominant inherited disease characterized by ventricular hypertrophy and myofibril disarray. Mutations responsible for hypertrophic cardiomyopathy have been identified in 11 genes that encode for cardiac sarcomere proteins. Traditionally, hypertrophic cardiomyopathy due to mutation of the myosin-binding protein C gene (MYBPC3) has been thought to follow a benign course....

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 Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MYBPC3 gene

Share to Mutation

Share to Pedigree

Share to Risk Factors

Source

Identifiers

PMID: 17394878

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

[High-risk hypertrophic cardiomyopathy associated with a novel mutation in cardiac Myosin-binding protein C].PMID 17394878Read ↗

A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.Semantic proximity Read ↗

A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

A novel MYBPC3 c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy.Semantic proximity Read ↗

[A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy].Semantic proximity Read ↗

[Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients].Semantic proximity Read ↗

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

[A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy].Semantic proximity Read ↗

[Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].Semantic proximity Read ↗

A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.Semantic proximity Read ↗

[P1208fs mutation in the cardiac myosin binding protein C is associated with hypertrophic cardiomyopathy in a Chinese pedigree].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 ↗

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