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Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Molecular genetics and metabolism - 1 Aug 2022

Wongkittichote Parith, Magistrati Martina, Shimony Joshua S, Smyser Christopher D, Fatemi Seyed Ali, Fine Amena S, Bellacchio Emanuele, Dallabona Cristina, Shinawi Marwan

Abstract excerpt

Biallelic pathogenic variants in the nuclear gene DARS2 (MIM# 610956), encoding the mitochondrial enzyme aspartyl-tRNA synthetase (MT-ASPRS) cause leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) (MIM# 611105), a neurometabolic disorder characterized by progressive ataxia, spasticity, developmental arrest or regression and characteristic brain MRI findings. Most...

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PMID: 35820270
DOI: 10.1016/j.ymgme.2022.07.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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