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A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).

Brain & development - 1 Oct 2016

Güngör Olcay, Özkaya Ahmet Kağan, Şahin Yavuz, Güngör Gülay, Dilber Cengiz, Aydın Kürşad

Abstract excerpt

Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course...

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Source

Identifiers

PMID: 27117034
DOI: 10.1016/j.braindev.2016.04.002

Genes

EARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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