Abstract
BACKGROUND: The nondesmosomal phospholamban (PLN) p.Arg14del mutation was identified in patients diagnosed with dilated cardiomyopathy (DCM) and/or arrhythmogenic cardiomyopathy (ACM). We aimed to investigate whether this mutation leads to aggregation, aggresome formation and autophagy of mutant PLN protein. METHODS AND RESULTS: We studied 20 complete heart specimens of PLN p.Arg14del
... read more