Abstract 14519: Unique Cardiac Phenotype in ALPK3-Related Disease: Progression From Dilated Cardiomyopathy to Hypertrophic Cardiomyopathy
作者
Johanna C. Herkert,Judith M. A. Verhagen,Dean Phelan,Paul Andrew James,Natasha J. Brown,Chloe Stutterd,Ivan Macciocca,Anu Aggarwal,Bert Timmer,Marion L. Bulthuis,Yolande van Bever,Amy E. Roberts,Christine E. Seidman,Neal K. Lakdawala,Michael A. Burke,Mary Ella Pierpont,Irene M. van Langen,Jan D.H. Jongbloed,Paul J. Lockhart,David J. Amor
出处
期刊:Circulation [Lippincott Williams & Wilkins] 日期:2018-11-06
Introduction: Biallelic truncating variants in ALPK3 have recently been described to cause pediatric cardiomyopathy (CMP). Functional studies have found disorganized intercalated discs and sarcomer...