Article
Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.
Genes - 28 Jul 2026
Cristalli Carlotta Pia, Schiavo Maria Alessandra, Foti Miryam Rosa Stella, Calabrese Sara, Isidori Federica, Margutti Alice, Laricchiuta Pierluigi, Governatori Giulia, Lai Francesco, Uliana Vera, Barocelli Federico, De Maria Elia, Fucili Alessandro, Sassone Biagio, Parmeggiani Giulia, Perugini Enrica, Lucca Camilla, Cappuccini Francesca, Pezzoli Laura, Iascone Maria, Piane Maria, Vitale Giovanni, Graziano Claudio, Selvatici Rita, Ferlini Alessandra, Graziosi Maddalena, Biagini Elena, Turchetti Daniela, Gualandi Francesca, Rossi Cesare
Abstract excerpt
Background: Founder mutations in MYBPC3 may contribute substantially to the genetic burden of hypertrophic cardiomyopathy (HCM) and provide important insights into genotype-phenotype correlations and population-specific disease mechanisms. In this study, we investigated two recurrent canonical splice-site variants, MYBPC3 c.1458-1G>A and c.3331-1G>A, identified in patients with HCM from the Emilia-Romagna region...
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