Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain.
Natalia Fernández SuárezMaría Teresa Viadero UbiernaJesús Garde BasasMaría Esther Onecha de la FuenteMaría Teresa Amigo LanzaGonzalo Martin GorriaAdrián Rivas PérezLuis Ruiz GuerreroDomingo González-LamuñoPublished in: Genes (2023)
is associated with a moderate phenotype of HCM, with a high penetrance, onset in middle age, and a worse outcome in males due to higher risk of sudden death due to arrhythmias.