Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures

OBJECTIVES: The purpose of this study was to assess the phenotype of Filamin C (FLNC) truncating variants in dilated cardiomyopathy (DCM) and understand the mechanism leading to an arrhythmogenic phenotype. BACKGROUND: Mutations in FLNC are known to lead to skeletal myopathies, which may have an ass...

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Vydáno v:JACC Clin Electrophysiol
Hlavní autoři: Begay, Rene L., Graw, Sharon L., Sinagra, Gianfranco, Asimaki, Angeliki, Rowland, Teisha J., Slavov, Dobromir B., Gowan, Katherine, Jones, Kenneth L., Brun, Francesca, Merlo, Marco, Miani, Daniela, Sweet, Mary, Devaraj, Kalpana, Wartchow, Eric P., Gigli, Marta, Puggia, Ilaria, Salcedo, Ernesto E., Garrity, Deborah M., Ambardekar, Amrut V., Buttrick, Peter, Reece, T. Brett, Bristow, Michael R., Saffitz, Jeffrey E., Mestroni, Luisa, Taylor, Matthew R.G.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6074050/
https://ncbi.nlm.nih.gov/pubmed/30067491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jacep.2017.12.003
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