[Unusual phenotype of myopathy associated with a new PNPLA2 mutation]

Med Sci (Paris). 2016 Nov:32 Hors série n°2:10-11. doi: 10.1051/medsci/201632s203. Epub 2016 Nov 21.
[Article in French]
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Humans
  • Immunohistochemistry
  • Lipase / genetics*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipids / analysis
  • Male
  • Middle Aged
  • Muscle Cells / chemistry
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Muscular Dystrophies / genetics*
  • Mutation*
  • Phenotype*

Substances

  • Lipids
  • Lipase
  • PNPLA2 protein, human

Supplementary concepts

  • Myopathy with Abnormal Lipid Metabolism