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María Sabater-Molina

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Sep 2026

Spanish founder variant in MYBPC3: implications of diagnostic criteria, clinical phenotype, and prognosis.

INTRODUCTION AND OBJECTIVES MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). This study presents the clinical phenotype of a founder variant in MYBPC3, p.Arg891Alafs*160, present in 47 families from southern Spain, and compares it with other described founder truncating variants in MYBPC...

Angel Júdez-Serrano, Jesús Wagih-Gómez, Serena Munteanu et al. · 0 citations

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