A novel homozygous mutation of DARS2 may cause a severe LBSL variant

Clin Genet. 2011 Sep;80(3):293-6. doi: 10.1111/j.1399-0004.2011.01644.x.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Aspartate-tRNA Ligase / genetics*
  • Child, Preschool
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 1*
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Haplotypes
  • Homozygote
  • Humans
  • Japan
  • Lactic Acid / metabolism*
  • Magnetic Resonance Spectroscopy
  • Male
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mutation
  • Posterior Leukoencephalopathy Syndrome / genetics*
  • Posterior Leukoencephalopathy Syndrome / pathology

Substances

  • Lactic Acid
  • Aspartate-tRNA Ligase
  • DARS2 protein, human