Leigh disease due to SCO2 mutations revealed at extended autopsy

J Clin Pathol. 2015 May;68(5):397-9. doi: 10.1136/jclinpath-2014-202606. Epub 2015 Feb 26.
No abstract available

Keywords: AUTOPSY PATHOLOGY; NEUROPATHOLOGY; POSTMORTEM.

Publication types

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

MeSH terms

  • Autopsy
  • Biomarkers / analysis
  • Brain / pathology
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • Fatal Outcome
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Leigh Disease / genetics*
  • Leigh Disease / metabolism
  • Leigh Disease / pathology
  • Liver / chemistry
  • Male
  • Mitochondrial Proteins / deficiency
  • Mitochondrial Proteins / genetics*
  • Molecular Chaperones
  • Muscle, Skeletal / chemistry
  • Mutation*
  • Myocardium / pathology
  • Phenotype

Substances

  • Biomarkers
  • Carrier Proteins
  • Mitochondrial Proteins
  • Molecular Chaperones
  • SCO2 protein, human