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Article

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

European heart journal - 1 Oct 2003

Alders Marielle, Jongbloed Roselie, Deelen Wout, van den Wijngaard Arthur, Doevendans Pieter, Ten Cate Folkert, Regitz-Zagrosek Vera, Vosberg Hans Peter, van Langen Irene, Wilde Arthur, Dooijes Dennis, Mannens Marcel

Abstract excerpt

AIMS: Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes that encode sarcomeric proteins. In this study we investigated the involvement of the sarcomeric myosin binding protein C in the Dutch HCM population. METHODS AND RESULTS: We initially screened 22 Dutch index patients for mutations in the MYBPC3 gene, which revealed four different mutations in 14 patients. The 2373insG mutation was identified...

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

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Source

Identifiers

PMID: 14563344
DOI: 10.1016/s0195-668x(03)00466-4

Genes

MYBPC3

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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.

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