Title : Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.

Pub. Date : 2020 Nov 9

PMID : 33182419






1 Functional Relationships(s)
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1 Leigh syndrome (LS) is most frequently characterized by the presence of focal, bilateral, and symmetric brain lesions Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare condition, characterized by progressive pyramidal, cerebellar, and dorsal column dysfunction. Lactic Acid aspartyl-tRNA synthetase 2, mitochondrial Homo sapiens