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<i>DARS2</i> mutations in mitochondrial leucoencephalopathy and multiple sclerosis

9 Jul 2009

Abstract excerpt

BACKGROUND: Leucoencephalopathy with brain stem and spinal cord involvement and high brain lactate (LBSL) was first defined by characteristic magnetic resonance imaging and spectroscopic findings. The clinical features include childhood or juvenile onset slowly progressive ataxia, spasticity, and dorsal column dysfunction, occasionally accompanied by learning difficulties. Mutations in DARS2, encoding...

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PMID: 19592391
DOI: 10.1136/jmg.2009.068221

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