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

Pub. Date : 2011 Oct

PMID : 21749991






2 Functional Relationships(s)
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1 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. Lactic Acid aspartyl-tRNA synthetase 2, mitochondrial Homo sapiens
2 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. Lactic Acid aspartyl-tRNA synthetase 2, mitochondrial Homo sapiens