A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

Grażyna Truszkowska1, Zofia T. Bilińska2, Joanna Kosińska3, Justyna Śleszycka4, Małgorzata Rydzanicz3, Małgorzata Sobieszczańska−Małek5, Maria Franaszczyk1, Maria Bilińska6, Piotr Stawiński7, Ewa Michalak2, Łukasz A. Małek8, Przemysław Chmielewski2, Bogna Foss-Nieradko2, Marcin M. Machnicki7, Tomasz Stokłosa7, Joanna Ponińska1, Łukasz Szumowski6, Jacek Grzybowski4, Jerzy Piwoński9, Wojciech Drygas9, Tomasz Zieliński5, Rafał Płoski3
1Laboratory of Molecular Biology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland
2Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland
3Department of Medical Genetics, Warsaw Medical University, ul. Pawińskiego 3C, 02-106, Warszawa, Poland
4Department of Cardiomyopathies, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland
5Department of Heart Failure and Transplantology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland
6Department of Arrhythmia, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland
7Department of Immunology, Center for Biostructure Research, Medical University of Warsaw, Warszawa, Poland
8Department of Interventional Cardiology and Angiology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland
9Department of Epidemiology, Cardiovascular Diseases Prevention and Promotion of Health, Institute of Cardiology, ul. Niemodlińska 33, 04-635, Warszawa, Poland

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