Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation

Rev Esp Cardiol (Engl Ed). 2015 Apr;68(4):346-9. doi: 10.1016/j.rec.2014.11.012. Epub 2015 Feb 17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • Arrhythmogenic Right Ventricular Dysplasia / metabolism
  • Arrhythmogenic Right Ventricular Dysplasia / physiopathology
  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Electrocardiography
  • Europe
  • Female
  • Humans
  • Mutation*
  • Pedigree

Substances

  • Calcium-Binding Proteins
  • phospholamban
  • DNA