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  • Title: Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation.
    Author: Han JY, Sung JJ, Park HK, Yoon BN, Lee KW.
    Journal: J Clin Neurosci; 2014 Nov; 21(11):2009-11. PubMed ID: 24961732.
    Abstract:
    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 of adult-onset LS demonstrating the m.8344 A>G mutation.
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