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A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation.
Zakrzewska-Koperska J, Bilińska ZT, Truszkowska GT, Franaszczyk M, Elikowski W, Warmiński G, Kalin K, Urbanek P, Bodalski R, Orczykowski M, Szumowski Ł, Płoski R, Bilińska M. Zakrzewska-Koperska J, et al. Among authors: truszkowska gt. ESC Heart Fail. 2020 Dec;7(6):4326-4335. doi: 10.1002/ehf2.12993. Epub 2020 Oct 20. ESC Heart Fail. 2020. PMID: 33084224 Free PMC article.
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.
Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R. Truszkowska GT, et al. BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0. BMC Med Genet. 2015. PMID: 25928149 Free PMC article.
A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy-A Possible Role of a Low Penetrance NLRP3 Variant.
Chmielewski P, Truszkowska GT, Kukla P, Zakrzewska-Koperska J, Śpiewak M, Stępień-Wojno M, Bilińska M, Lutyńska A, Płoski R, Bilińska ZT. Chmielewski P, et al. Among authors: truszkowska gt. Diagnostics (Basel). 2020 Nov 16;10(11):955. doi: 10.3390/diagnostics10110955. Diagnostics (Basel). 2020. PMID: 33207704 Free PMC article.