Title : Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Pub. Date : 2013 May 2

PMID : 23643384






2 Functional Relationships(s)
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1 Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology. Lactic Acid aspartyl-tRNA synthetase 2, mitochondrial Homo sapiens
2 Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology. Lactic Acid aspartyl-tRNA synthetase 2, mitochondrial Homo sapiens