Unique Cardiac Phenotype in ALPK3-Related Disease: Progression From Dilated Cardiomyopathy to Hypertrophic Cardiomyopathy

Johanna C. Herkert,Judith M. Verhagen,Dean G. Phelan,Paul A. 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. Jongbloed,Paul J. Lockhart,David J. Amor,Ingrid M. van de Laar

Circulation（2018）

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摘要

Introduction: Biallelic truncating variants in ALPK3 have recently been described to cause pediatric cardiomyopathy (CMP). Functional studies have found disorganized intercalated discs and sarcomer...

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unique cardiac phenotype

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