Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

@article{Steenweg2012LeukoencephalopathyWT,
  title={Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.},
  author={Marjan E. Steenweg and Daniele Ghezzi and Tobias B. Haack and Truus E. M. Abbink and Diego Martinelli and Carola G. M. van Berkel and Annette E Bley and Lu{\'i}sa M Diogo and Eug{\^e}nio Grillo and Johann te Water Naude and Tim Matthias Strom and Enrico Bertini and Holger Prokisch and Marjo S. van der Knaap and Massimo Zeviani},
  journal={Brain : a journal of neurology},
  year={2012},
  volume={135 Pt 5},
  pages={1387-94}
}
In the large group of genetically undetermined infantile-onset mitochondrial encephalopathies, multiple defects of mitochondrial DNA-related respiratory-chain complexes constitute a frequent biochemical signature. In order to identify responsible genes, we used exome-next-generation sequencing in a selected cohort of patients with this biochemical signature. In an isolated patient, we found two mutant alleles for EARS2, the gene encoding mitochondrial glutamyl-tRNA synthetase. The brain… CONTINUE READING