Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

@article{Zwaag2012PhospholambanRM,
  title={Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.},
  author={Paul A van der Zwaag and Ingrid A W van Rijsingen and Angeliki Asimaki and Jan J D H Jongbloed and D. J. Van Veldhuisen and Ans C. P. Wiesfeld and Moniek G. P. J. Cox and Laura T van Lochem and Rudolf A de Boer and Robert M. W. Hofstra and Imke Christiaans and Karin Y. van Spaendonck-Zwarts and Ronald H Lekanne dit Deprez and Daniel P Judge and Hugh Calkins and Albert J Suurmeijer and Richard N. W. Hauer and Jeffrey E. Saffitz and Arthur A. M. Wilde and Maarten P. van den Berg and J Peter van Tintelen},
  journal={European journal of heart failure},
  year={2012},
  volume={14 11},
  pages={1199-207}
}
AIMS To investigate whether phospholamban gene (PLN) mutations underlie patients diagnosed with either arrhythmogenic right ventricular cardiomyopathy (ARVC) or idiopathic dilated cardiomyopathy (DCM). METHODS AND RESULTS We screened a cohort of 97 ARVC and 257 DCM unrelated index patients for PLN mutations and evaluated their clinical characteristics. PLN mutation R14del was identified in 12 (12 %) ARVC patients and in 39 (15 %) DCM patients. Haplotype analysis revealed a common founder… CONTINUE READING