Article

B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene

2025-04-21

Abstract excerpt

<title>Abstract</title> <p>Purpose The <italic>EARS2</italic> gene, a member of the mt-aaRS family, encodes mitochondrial glutamyl-tRNA synthetase (GluRS), which is involved in the synthesis of mitochondrial proteins. Pathogenic defects in EARS2 may cause mitochondrial OXPHOS deficiency, which is associated with a rare autosomal-recessive mitochondrial disease, leukoencephalopathy with thalamus and brainstem inv...

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Literature Corpus work: 217e745f-d928-530b-8e85-111a0714afbe
DOI: 10.21203/rs.3.rs-6227004/v1

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