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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:EMBO Mol Med
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
Ämnen:
Articles
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk