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FLNC missense variants in familial noncompaction cardiomyopathy

Jaap I. Van Waning, Yvonne M. Hoedemaekers, Wouter P. Te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur Van den Wijngaard, Albert Suurmeijer, Marjon A. Van Slegtenhorst, Jan D.H. Jongbloed (+2 others)
2019 Cardiogenetics  

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The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and DCM. We expand the spectrum of FLNC related cardiomyopathies by presenting two families with likely pathogenic FLNC variants showing familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities.
doi:10.4081/cardiogenetics.2019.8181 fatcat:zp5svmu7ongxzki67tqs37aacy
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Jaap I. Van Waning, Yvonne M. Hoedemaekers, Wouter P. Te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur Van den Wijngaard, Albert Suurmeijer, Marjon A. Van Slegtenhorst, Jan D.H. Jongbloed, Danielle F. Majoor-Krakauer, Paul A. Van der Zwaag. "FLNC missense variants in familial noncompaction cardiomyopathy." Cardiogenetics 9.1 (2019)