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Article

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Human mutation - 1 Jun 2008

Fokstuen Siv, Lyle Robert, Munoz Analia, Gehrig Corinne, Lerch René, Perrot Andreas, Osterziel Karl Josef, Geier Christian, Beghetti Maurice, Mach François, Sztajzel Juan, Sigwart Ulrich, Antonarakis Stylianos E, Blouin Jean-Louis

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a heterogeneous autosomal dominant cardiac disorder with a prevalence of 1 in 500. Over 450 different pathogenic mutations in at least 16 genes have been identified so far. The large allelic and genetic heterogeneity of HCM requires high-throughput, rapid, and...

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Topics

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Share to Cardiomyopathy, Hypertrophic
Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to PRKAG2 gene

Share to TNNI3 gene

Share to TPM1 gene

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Source

Identifiers

PMID: 18409188
DOI: 10.1002/humu.20749

Genes

MYBPC3
MYH7
MYL3
TNNI3
CSRP3
MYL2
PLN
PRKAG2
TNNC1
TNNT2
TPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18409188-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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