Autosomal recessive transmission of familial nonsyndromic dilated cardiomyopathy due to compound desmoplakin gene mutations

Pol Arch Intern Med. 2018 Dec 21;128(12):785-787. doi: 10.20452/pamw.4365. Epub 2018 Nov 6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cardiomyopathy, Dilated / diagnosis*
  • Cardiomyopathy, Dilated / genetics
  • Desmoplakins / genetics*
  • Gene Deletion
  • Genes, Recessive*
  • Humans
  • Male
  • Mutation, Missense / physiology
  • Pedigree*

Substances

  • DSP protein, human
  • Desmoplakins

Supplementary concepts

  • Familial dilated cardiomyopathy