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Article

Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.

Neurobiology of disease - 1 Oct 2024

Pelayo Gonçalo, Paiva Coelho Margarida, Correia Joana, Bandeira Anabela, Nogueira Célia, Vilarinho Laura, Martins Esmeralda

Abstract excerpt

Mitochondrial glutamyl-aminoacyl tRNA synthetase deficiency, stemming from biallelic mutations in the EARS2 gene, was first described in 2012. With <50 cases reported globally, this condition exhibits a distinct phenotype of neonatal or childhood-onset, often referred to as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). It has also been one of the few reversible mitochondrial...

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PMID: 39173847
DOI: 10.1016/j.nbd.2024.106644

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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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