Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM.

doi:10.1161/CIRCRESAHA.122.321956

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Article

Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM.

Circulation research - 3 Mar 2023

Pioner Josè Manuel, Vitale Giulia, Steczina Sonette, Langione Marianna, Margara Francesca, Santini Lorenzo, Giardini Francesco, Lazzeri Erica, Piroddi Nicoletta, Scellini Beatrice, Palandri Chiara, Schuldt Maike, Spinelli Valentina, Girolami Francesca, Mazzarotto Francesco, van der Velden Jolanda, Cerbai Elisabetta, Tesi Chiara, Olivotto Iacopo, Bueno-Orovio Alfonso, Sacconi Leonardo, Coppini Raffaele, Ferrantini Cecilia, Regnier Michael, Poggesi Corrado

Abstract excerpt

BACKGROUND: The pathogenesis of MYBPC3-associated hypertrophic cardiomyopathy (HCM) is still unresolved. In our HCM patient cohort, a large and well-characterized population carrying the MYBPC3:c772G>A variant (p.Glu258Lys, E258K) provides the unique opportunity to study the basic mechanisms of MYBPC3-HCM with a comprehensive translational approach. METHODS: We collected clinical and genetic data from 93 HCM...

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PMID: 36744470
DOI: 10.1161/CIRCRESAHA.122.321956
PMCID: PMC9977265

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