CardiologyHypertrophic CardiomyopathyMissplicing
Unveiling a Cryptic MYBPC3 Variant Amplifying Missplicing in Hypertrophic Cardiomyopathy
By MedXY|Sep 18, 2026
A deep-intronic MYBPC3 variant magnifies natural mRNA missplicing events, causing hypertrophic cardiomyopathy and explaining previously genotype-negative cases through an ancient founder effect and novel splice regulation.