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Article

Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Nov 2014

Han Jee-Young, Sung Jung-Joon, Park Hong-Kyun, Yoon Byung-Nam, Lee Kwang-Woo

Abstract excerpt

We report a pedigree of adult-onset Leigh syndrome (LS) with mitochondrial mutation 8344 A>G. A 38-year-old woman presented with optic neuropathy, weakness and cognitive impairment. Family history of optic neuropathy and systemic involvement was suggestive of mitochondrial encephalopathy. Genetic and radiologic studies showed m.8344 A>G mutation with characteristics of LS. To our knowledge this is the first case...

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Identifiers

PMID: 24961732
DOI: 10.1016/j.jocn.2014.03.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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