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Published in 2023 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.add4248
Abstract: Arrhythmogenic cardiomyopathy (ACM) is an inherited progressive cardiac disease. Many patients with ACM harbor mutations in desmosomal genes, predominantly in plakophilin-2 (PKP2). Although the genetic basis of ACM is well characterized, the underlying disease-driving mechanisms…
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Keywords:
arrhythmogenic cardiomyopathy;
cardiomyopathy;
desmosomal protein;
degradation ... See more keywords