Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

Circ Cardiovasc Genet. 2016 Aug;9(4):384-7. doi: 10.1161/CIRCGENETICS.116.001455.
No abstract available

MeSH terms

  • Adult
  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • Desmocollins / genetics*
  • Desmocollins / metabolism*
  • Humans
  • Male
  • Mutation
  • Pedigree

Substances

  • DSC2 protein, human
  • Desmocollins