A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy

Circ Genom Precis Med. 2020 Dec;13(6):e003127. doi: 10.1161/CIRCGEN.120.003127. Epub 2020 Nov 15.
No abstract available

Keywords: atrial fibrillation; cardiomyopathy, hypertrophic; genetics; heart failure; whole genome sequencing.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Base Sequence
  • Cardiomyopathy, Hypertrophic / epidemiology*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / pathology
  • Female
  • Genes, Dominant*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Muscle Proteins / genetics*
  • Mutation / genetics*
  • Pedigree
  • Protein Kinases / genetics*

Substances

  • Alpk3 protein human
  • Muscle Proteins
  • Protein Kinases