Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures
Rene L. Begay, Sharon L. Graw, Gianfranco Sinagra, Angeliki Asimaki, Teisha J. Rowland, Dobromir B. Slavov, Katherine Gowan, Kenneth L. Jones, Francesca Brun, Marco Merlo, Daniela Miani, Mary Sweet, Kalpana Devaraj, Eric P. Wartchow, Marta Gigli, Ilaria Puggia, Ernesto E. Salcedo, Deborah M. Garrity, Amrut V. Ambardekar, Peter Buttrick, T. Brett Reece, Michael R. Bristow, Jeffrey E. Saffitz, Luisa Mestroni and Matthew R.G. Taylor
Immunohistochemistry of Left Ventricular Myocardial Tissue
Immunostaining of the explanted heart of patient DNFDC057-II:2 carrying the G1891Vfs61X FLNC truncation. (A) Immunoreactive signals for plakoglobin and connexin 43 (Cx43) at intercalated discs are normal compared with control samples, whereas junctional signal for desmoplakin is reduced. N-cadherin is used as a tissue quality control and is normal in all samples. (B) SAP97 signal is depressed compared with control samples. GSK3β maintained its normal cytoplasmic distribution.