Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family

Pol Arch Med Wewn. 2016 Sep 27;126(9):704-707. doi: 10.20452/pamw.3567. Epub 2016 Sep 27.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / complications*
  • Arrhythmias, Cardiac / genetics
  • Arrhythmias, Cardiac / metabolism
  • DNA Mutational Analysis
  • Death, Sudden, Cardiac / etiology
  • Desmoplakins / genetics*
  • Frameshift Mutation*
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Pedigree
  • Ventricular Dysfunction / complications*
  • Ventricular Dysfunction / genetics
  • Ventricular Dysfunction / metabolism

Substances

  • DSP protein, human
  • Desmoplakins