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Article

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

Journal of medical genetics - 1 Oct 2011

Synofzik Matthis, Schicks Julia, Lindig Tobias, Biskup Saskia, Schmidt Thorsten, Hansel Jochen, Lehmann-Horn Frank, Schöls Ludger

Abstract excerpt

BACKGROUND: Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) was recently shown to be caused by mutations in the DARS2 gene, encoding a mitochondrial aspartyl-tRNA synthetase. So far, affected individuals were invariably compound heterozygous for...

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Source

Identifiers

PMID: 21749991
DOI: 10.1136/jmg.2011.090282

Genes

DARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21749991-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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