Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

Int J Cardiol. 2016 Mar 15:207:165-7. doi: 10.1016/j.ijcard.2016.01.137. Epub 2016 Jan 9.
No abstract available

Keywords: Cardiomyopathy; Lipid droplet; Myopathy; Neutral lipid storage disease; PNPLA2/ATGL; Triacylglycerol.

Publication types

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

MeSH terms

  • Adult
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / enzymology
  • Cardiomyopathies / genetics*
  • Humans
  • Lipase / deficiency*
  • Lipase / genetics*
  • Male
  • Mutation / genetics*
  • Severity of Illness Index*

Substances

  • Lipase
  • PNPLA2 protein, human