Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

Abstract 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 obstructi...

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Main Authors: Maksymilian Prondzynski, Marc D Lemoine, Antonia TL Zech, András Horváth, Vittoria Di Mauro, Jussi T Koivumäki, Nico Kresin, Josefine Busch, Tobias Krause, Elisabeth Krämer, Saskia Schlossarek, Michael Spohn, Felix W Friedrich, Julia Münch, Sandra D Laufer, Charles Redwood, Alexander E Volk, Arne Hansen, Giulia Mearini, Daniele Catalucci, Christian Meyer, Torsten Christ, Monica Patten, Thomas Eschenhagen, Lucie Carrier
Format: Article
Language:English
Published: Springer Nature 2019-11-01
Series:EMBO Molecular Medicine
Subjects:
disease modeling
human‐induced pluripotent stem cells
hypertrophic cardiomyopathy
long QT syndrome
precision medicine
Online Access:https://doi.org/10.15252/emmm.201911115
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