Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation
Sign Up to like & getrecommendations! Published in 2018 at "Indian Heart Journal"
DOI: 10.1016/j.ihj.2017.10.010
Abstract: Objective Arrhythmogenic cardiomyopathy (ACM) is not an uncommon cause of cardiac morbidity in Kashmir valley. This study was designed to document various clinical features and to sequence exons 11 and 12 of plakophilin 2 (PKP2)… read more here.
Keywords: mutation; acm patients; recessive plakophilin; arrhythmogenic cardiomyopathy ... See more keywords
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13050782
Abstract: Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on… read more here.
Keywords: pkp2 gene; variant placophilin; disease; placophilin gene ... See more keywords