| Literature DB >> 24961732 |
Jee-Young Han1, Jung-Joon Sung2, Hong-Kyun Park1, Byung-Nam Yoon3, Kwang-Woo Lee1.
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.Entities:
Keywords: Adult-onset; Leigh syndrome; Mitochondrial disorders; Mitochondrial encephalopathy; Myoclonic epilepsy and ragged red fibers
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Year: 2014 PMID： 24961732 DOI： 10.1016/j.jocn.2014.03.020
Source DB: PubMed Journal: J Clin Neurosci ISSN： 0967-5868 Impact factor: 1.961