Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort

Freyja H. M. van Lint*, Brittney Murray, Crystal Tichnell, Rob Zwart, Nuria Amat, Ronald H. Lekanne Deprez, Sven Dittmann, Birgit Stallmeyer, Hugh Calkins, Jasper J. van der Smagt, Arthur van den Wijngaard, Dennis Dooijes, Paul A. van der Zwaag, Eric Schulze-Bahr, Daniel P. Judge, Jan D. H. Jongbloed, J. Peter van Tintelen, Cynthia A. James

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number002467
Number of pages8
JournalCirculation: Genomic and Precision Medicine
Volume12
Issue number8
DOIs
Publication statusPublished - Aug 2019

Keywords

  • arrhythmogenic right ventricular cardiomyopathy
  • desmosome
  • genetics
  • genotype
  • haplotypes
  • DESMOCOLLIN-2 MUTATIONS
  • CLINICAL PRESENTATION
  • DYSPLASIA/CARDIOMYOPATHY
  • PLAKOPHILIN-2
  • FAMILIES
  • GENETICS
  • PENETRANCE
  • RECURRENT
  • FEATURES
  • AGE

Cite this

van Lint, F. H. M., Murray, B., Tichnell, C., Zwart, R., Amat, N., Deprez, R. H. L., Dittmann, S., Stallmeyer, B., Calkins, H., van der Smagt, J. J., van den Wijngaard, A., Dooijes, D., van der Zwaag, P. A., Schulze-Bahr, E., Judge, D. P., Jongbloed, J. D. H., van Tintelen, J. P., & James, C. A. (2019). Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort. Circulation: Genomic and Precision Medicine, 12(8), [002467]. https://doi.org/10.1161/CIRCGEN.119.002467