Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

Edgar T. Hoorntje, Ilse A. Bollen, Daniela Q. Barge-Schaapveld, Florence H. van Tienen, Gerard J. te Meerman, Joeri A. Jansweijer, Anthonie J. van Essen, Paul G. Volders, Alina A. Constantinescu, Peter C. van den Akker, Karin Y. van Spaendonck-Zwarts, Rogier A. Oldenburg, Carlo L. Marcelis, Jasper J. van der Smagt, Eric A. Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A. Wilde, Arthur van den WijngaardJos L. Broers, Jan D. Jongbloed, Jolanda van der Velden, Maarten P. van den Berg, J. Peter van Tintelen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number001631
Number of pages36
JournalCirculation : Cardiovascular Genetics
Volume10
Issue number4
DOIs
Publication statusPublished - Aug 2017

Keywords

  • atrial fibrillation
  • atrioventricular block
  • cardiomyopathy, dilated
  • lipodystrophy
  • survival
  • IDIOPATHIC DILATED CARDIOMYOPATHY
  • RIGHT-VENTRICULAR CARDIOMYOPATHY
  • 324 UNRELATED PATIENTS
  • GENE-MUTATIONS
  • ATRIOVENTRICULAR-BLOCK
  • MISSENSE MUTATIONS
  • SUDDEN-DEATH
  • LMNA CAUSES
  • HIGH-RISK
  • SCN5A

Cite this

Hoorntje, E. T., Bollen, I. A., Barge-Schaapveld, D. Q., van Tienen, F. H., te Meerman, G. J., Jansweijer, J. A., van Essen, A. J., Volders, P. G., Constantinescu, A. A., van den Akker, P. C., van Spaendonck-Zwarts, K. Y., Oldenburg, R. A., Marcelis, C. L., van der Smagt, J. J., Hennekam, E. A., Vink, A., Bootsma, M., Aten, E., Wilde, A. A., ... van Tintelen, J. P. (2017). Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. Circulation : Cardiovascular Genetics, 10(4), [001631]. https://doi.org/10.1161/CIRCGENETICS.116.001631