An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten
Lisa Leinhos, Paul J. Robinson, Giulia Poloni, Sophie Broadway‐Stringer, Julia Beglov, Adam B Lokman, Gillian Douglas, Sajjad Nuthay, Oveena Fonseka, Manuel Schmid, Evie Singer, Charlotte L. Hooper, Kate L. Thomson, Richard D. Bagnall, Jodie Ingles, , Katja Gehmlich
This study identifies an ALPK3 truncation variant causing HCM and shows that mavacamten partially rescues cardiac contractility and calcium handling defects in a mouse model.
Scientific Reports · Mar 24, 2025Peer-reviewedGenetics