{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T00:09:19Z","timestamp":1781914159710,"version":"3.54.5"},"reference-count":26,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,7]]},"abstract":"\n Introduction:<\/jats:title>\n Establishing a diagnosis of mitochondrial disease in adults remains a clinician\u2019s challenge. We report a case of syndrome reminiscent of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) in an adult patient who carries m.10158T>C mutation in complex I respiratory chain gene MT-ND3<\/jats:italic> (mitochondrially encoded NADH dehydrogenase 3).<\/jats:p>\n <\/jats:sec>\n \n Case Report:<\/jats:title>\n This 26-year-old man from Thailand presented with new-onset headaches, seizures, stroke-like episodes, and poor vision due to optic neuropathy and cortical blindness. Instead of expected mutations in the mitochondrial tRNA gene that are frequently associated with MELAS, the mutation in MT-ND3<\/jats:italic> with variable tissue heteroplasmy (blood 5.3%, muscle 89.5%) was demonstrated. The patient\u2019s clinical features, blood biomarkers, neuroimaging findings, muscle biopsy with histochemical and functional in vitro analysis, and genetic studies were analyzed and compared with all previously reported ND3 disease cases.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n ND3 disease due to m.10158T>C mutation was previously described only in patients with Leigh or Leigh-like syndrome. Our findings thus indicate that ND3 disease can manifest with atypical phenotype in adults. The diagnosis of mitochondrial disease caused by other than typical MELAS-associated mutations in adults with stroke-like episodes, headaches, and seizures should be considered. An analysis of tissue other than blood, which is more likely to harbor a tissue-specific mitochondrial DNA mutation at a measurable level, may be necessary for diagnosis.<\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/nrl.0000000000000084","type":"journal-article","created":{"date-parts":[[2016,6,25]],"date-time":"2016-06-25T23:09:18Z","timestamp":1466896158000},"page":"61-65","source":"Crossref","is-referenced-by-count":15,"title":["Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient"],"prefix":"10.1097","volume":"21","author":[{"given":"Ivana","family":"Vodopivec","sequence":"first","affiliation":[{"name":"Harvard Medical School"},{"name":"Department of Neurology, Massachusetts General Hospital"},{"name":"Massachusetts Eye and Ear Infirmary, Neuro-Ophthalmology Service"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracey A.","family":"Cho","sequence":"additional","affiliation":[{"name":"Harvard 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