Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies

Circ Genom Precis Med. 2023 Jun;16(3):277-279. doi: 10.1161/CIRCGEN.122.003881. Epub 2023 Apr 4.
No abstract available

Keywords: autopsy; cardiomyopathies; child; hospitalization; infant; shock, cardiogenic.

Publication types

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

MeSH terms

  • AMP-Activated Protein Kinases
  • Cardiomyopathies* / genetics
  • Humans
  • Infant, Newborn
  • Mutation

Substances

  • AMP-Activated Protein Kinases
  • PRKAG2 protein, human