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

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

Nature genetics - 1 Dec 1995

Watkins H, Conner D, Thierfelder L, Jarcho J A, MacRae C, McKenna W J, Maron B J, Seidman J G, Seidman C E

Abstract excerpt

Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disorder manifesting as cardiac hypertrophy with myocyte disarray and an increased risk of sudden death. Mutations in five different loci cause FHC and 3 disease genes have been identified: beta cardiac myosin heavy chain, alpha tropomyosin and cardiac troponin T. Because these genes encode contractile proteins, other FHC loci are predicted also...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amino Acid Sequence

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

Share to Base Sequence

Share to Genetic Linkage

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 7493025
DOI: 10.1038/ng1295-434

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

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.PMID 7493025Read ↗

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

The mechanics of the heart: zooming in on hypertrophic cardiomyopathy and cMyBP-C.Semantic proximity Read ↗

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

Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Molecular genetics of familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships.Semantic proximity Read ↗

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

Cardiac myosin binding protein C: its role in physiology and disease.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 ↗

Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice.Semantic proximity Read ↗

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