Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy

Circ Res. 2013 Mar 1;112(5):e51-4. doi: 10.1161/CIRCRESAHA.113.300944.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Bezafibrate / pharmacology
  • Bezafibrate / therapeutic use*
  • Fatty Acids / metabolism
  • Female
  • Humans
  • Hypolipidemic Agents / pharmacology
  • Hypolipidemic Agents / therapeutic use*
  • Lipase / genetics*
  • Lipid Metabolism / drug effects
  • Lipid Metabolism, Inborn Errors / drug therapy*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / metabolism
  • Muscular Diseases / drug therapy*
  • Muscular Diseases / genetics*
  • Muscular Diseases / metabolism
  • Mutation / genetics*
  • Treatment Outcome

Substances

  • Fatty Acids
  • Hypolipidemic Agents
  • Lipase
  • PNPLA2 protein, human
  • Bezafibrate

Supplementary concepts

  • Neutral Lipid Storage Disease with Myopathy