Abstract 14519: Unique Cardiac Phenotype in ALPK3-Related Disease: Progression From Dilated Cardiomyopathy to Hypertrophic Cardiomyopathy

2018 
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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