Article
Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.
EMBO molecular medicine - 1 Dec 2019
Prondzynski Maksymilian, Lemoine Marc D, Zech Antonia Tl, Horváth András, Di Mauro Vittoria, Koivumäki Jussi T, Kresin Nico, Busch Josefine, Krause Tobias, Krämer Elisabeth, Schlossarek Saskia, Spohn Michael, Friedrich Felix W, Münch Julia, Laufer Sandra D, Redwood Charles, Volk Alexander E, Hansen Arne, Mearini Giulia, Catalucci Daniele, Meyer Christian, Christ Torsten, Patten Monica, Eschenhagen Thomas, Carrier Lucie
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural and contractile alterations. We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 in a HCM patient, who presented with left ventricular hypertrophy, outflow tract obstruction, and atrial fibrillation. We generated patient-derived human-induced pluripotent stem cells (hiPSCs) and show that...
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