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Article

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

Open heart - 1 Jan 2020

Adalsteinsdottir Berglind, Burke Michael, Maron Barry J, Danielsen Ragnar, Lopez Begoña, Diez Javier, Jarolim Petr, Seidman Jonathan, Seidman Christine E, Ho Carolyn Y, Gunnarsson Gunnar Th

Abstract excerpt

Objective: The myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among carriers of this single, prevalent founder mutation. Methods: We studied 60 probands with HCM caused by MYBPC3 c.927-2A>G and 225 first-degree relatives. All...

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Identifiers

PMID: 32341788
DOI: 10.1136/openhrt-2019-001220
PMCID: PMC7174027

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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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