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
Immunostaining of the buccal mucosa in patients DNFDC057-II:1 and II:2 shows normal signals for plakoglobin, and diminished signal for connexin 43 (Cx43), desmoplakin, and SAP97. E-cadherin staining is used as a cell quality control and is normal in all samples.