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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients.

europace

Quantitative analysis of<i>PKP2</i>and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous<i>PKP2</i>deletion

Quantitative analysis ofPKP2and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygousPKP2deletion