Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

Brain. 2013 Feb;136(Pt 2):e228. doi: 10.1093/brain/aws197. Epub 2012 Sep 24.
No abstract available

Publication types

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

MeSH terms

  • Brain Stem / pathology*
  • Female
  • Glutamate-tRNA Ligase / genetics*
  • Humans
  • Lactic Acid / metabolism*
  • Leukoencephalopathies*
  • Male
  • Mutation / genetics*
  • Thalamus / pathology*

Substances

  • Lactic Acid
  • Glutamate-tRNA Ligase