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Article

Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Jun 2011

Gruner Christiane, Care Melanie, Siminovitch Katherine, Moravsky Gil, Wigle E Douglas, Woo Anna, Rakowski Harry

Abstract excerpt

BACKGROUND: Apical hypertrophic cardiomyopathy (HCM) is a unique form of HCM with left ventricular hypertrophy confined to the cardiac apex. The purpose of our study was to report genetic findings in a large series of unrelated patients with apical HCM and compare them with a nonapical HCM cohort. METHODS AND RESULTS: Overall, 429 patients with HCM underwent genetic testing. The panel included 8 sarcomere protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21511876
DOI: 10.1161/CIRCGENETICS.110.958835

Genes

MYBPC3
MYH7
GLA
LAMP2
PRKAG2

Provenance

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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