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Article

Characterization of heterozygous and homozygous mouse models with the most common hypertrophic cardiomyopathy mutation MYBPC3c.2373InsG in the Netherlands.

Journal of molecular and cellular cardiology - 1 Dec 2023

Hilderink Sarah, Schuldt Maike, Goebel Max, Jansen Valentijn J, Manders Emmy, Moorman Stan, Dorsch Larissa M, van Steenbeek Frank G, van der Velden Jolanda, Kuster Diederik W D

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in the cardiac myosin binding protein-C (cMyBP-C) encoding gene MYBPC3. In the Netherlands, approximately 25% of patients carry the MYBPC3c.2373InsG founder mutation. Most patients are heterozygous (MYBPC3+/InsG) and have highly variable phenotypic expression, whereas homozygous (MYBPC3InsG/InsG) patients have severe HCM at a young age. To...

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PMID: 37844837
DOI: 10.1016/j.yjmcc.2023.10.008

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