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Article

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

Journal of molecular medicine (Berlin, Germany) - 1 Jul 2002

Jääskeläinen Pertti, Kuusisto Johanna, Miettinen Raija, Kärkkäinen Päivi, Kärkkäinen Satu, Heikkinen Sami, Peltola Paula, Pihlajamäki Jussi, Vauhkonen Ilkka, Laakso Markku

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by cardiac hypertrophy caused by mutations in genes encoding sarcomere proteins. This study screened all patients with HCM from the Kuopio University Hospital region in eastern Finland for variants in the cardiac myosin-binding protein C gene ( MYBPC3). All 35 exons of MYBPC3 were screened by the single-strand conformation polymorphism method...

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Share to Cardiomyopathy, Hypertrophic, Familial
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Genetic

Source

Identifiers

PMID: 12110947
DOI: 10.1007/s00109-002-0323-9

Genes

MYBPC3

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

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Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.PMID 12110947Read ↗

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Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.Semantic proximity Read ↗

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

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic CardiomyopathySemantic 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 ↗

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

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