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Raised lactic acid levels and genetic analysis confirmed a diagnosis of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2023-256306","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T02:30:15Z","timestamp":1709001015000},"page":"e256306","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge"],"prefix":"10.1136","volume":"17","author":[{"given":"Jason","family":"Acquaah","sequence":"first","affiliation":[{"name":"Neurosciences, University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Ferdinand","sequence":"additional","affiliation":[{"name":"Neurosciences, University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Roffe","sequence":"additional","affiliation":[{"name":"Neurosciences, University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK"},{"name":"Stroke Research, Keele University School of Medicine, Keele, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,2,26]]},"reference":[{"key":"2025082703552116000_17.2.e256306.1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1212\/CON.0000000000000432","article-title":"Inherited and uncommon causes of stroke","volume":"23","author":"Majersik","year":"2017","journal-title":"CONTINUUM (Minneap Minn)"},{"key":"2025082703552116000_17.2.e256306.2","doi-asserted-by":"crossref","first-page":"2780","DOI":"10.1007\/s00415-020-09836-x","article-title":"Heritable and non-heritable uncommon causes of stroke","volume":"268","author":"Bersano","year":"2021","journal-title":"J Neurol"},{"key":"2025082703552116000_17.2.e256306.3","unstructured":"Pia S , Lui F . 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MELAS. In: Adam MP , Mirzaa GM , Pagon RA , et al , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle, 2001: 1993\u20132023."},{"key":"2025082703552116000_17.2.e256306.15","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M908734199"},{"key":"2025082703552116000_17.2.e256306.16","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.12.2.480"},{"key":"2025082703552116000_17.2.e256306.17","unstructured":"Scaglia F . Melas syndrome - symptoms, causes, treatment: Nord. National Organization for Rare Disorders. National Organization for Rare Disorders, 2011. 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