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

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 a...

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Publicado no:EMBO Mol Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6895603/
https://ncbi.nlm.nih.gov/pubmed/31680489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201911115
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