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

Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.

Annals of medicine - 1 Jan 2004

Jääskeläinen Pertti, Miettinen Raija, Kärkkäinen Päivi, Toivonen Lauri, Laakso Markku, Kuusisto Johanna

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a genetically and clinically heterogeneous myocardial disease caused by mutations in genes encoding sarcomeric proteins. To assess the genetic background and phenotypic expression of HCM in eastern Finland, we screened 35 unrelated patients with HCM from the Kuopio University Hospital area for variants in 9 genes encoding sarcomeric proteins with the PCR-SSCP method. We...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Finland

Share to Muscle Proteins

Share to Patient Selection

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 15000344
DOI: 10.1080/07853890310017161

Genes

MYBPC3
TPM1
MYH7

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.PMID 15000344Read ↗

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.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 and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.Semantic proximity Read ↗

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Sarcomeric genotyping in hypertrophic cardiomyopathy.Semantic proximity Read ↗

A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.Semantic proximity Read ↗

The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.Semantic 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 ↗

Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study.Semantic proximity Read ↗

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers.Semantic proximity Read ↗

Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.Semantic proximity Read ↗

Mutation‐Specific Phenotypes in hiPSC‐Derived Cardiomyocytes Carrying Either Myosin‐Binding Protein C Or <i>α</i>‐Tropomyosin Mutation for Hypertrophic CardiomyopathySemantic proximity Read ↗

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