A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype

Hellenic J Cardiol. 2021 Jan-Feb;62(1):95-98. doi: 10.1016/j.hjc.2020.04.014. Epub 2020 May 7.
No abstract available

Keywords: arrhythmogenic cardiomyopathy; cutaneous phenotype; desmoplakin; mutation.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arrhythmogenic Right Ventricular Dysplasia* / diagnosis
  • Arrhythmogenic Right Ventricular Dysplasia* / genetics
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / genetics
  • Desmoplakins / genetics
  • Humans
  • Mutation
  • Pedigree
  • Phenotype

Substances

  • Desmoplakins