{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T17:18:07Z","timestamp":1781111887383,"version":"3.54.1"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,5,30]]},"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>MELAS (mitochondrial encephalopathy lactic acidosis and stroke-like episodes) syndrome is a condition characterised by varied systemic involvement with neurological manifestations. It is a rare, inherited, neurodegenerative disorder caused by mitochondrial dysfunction that leads to energy production disturbances. Psychiatric manifestations may be detected rarely in this genetic condition. We present a case of a female in her mid-40s who had a heteroplasmic mutation in the <jats:italic>MT-TL1<\/jats:italic> gene associated with MELAS and developed frank psychiatric manifestations.<\/jats:p>","DOI":"10.1136\/bcr-2024-264055","type":"journal-article","created":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T14:05:26Z","timestamp":1750860326000},"page":"e264055","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Psychiatric manifestations in a patient with a pathogenic variant in the <i>MT-TL1<\/i> gene associated with MELAS"],"prefix":"10.1136","volume":"18","author":[{"given":"Anindita","family":"Gujrati","sequence":"first","affiliation":[{"name":"Psychiatry, Bharati Vidyapeeth, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7836-6075","authenticated-orcid":false,"given":"Manjiri Chaitanya","family":"Datar","sequence":"additional","affiliation":[{"name":"Psychiatry, Bharati Vidyapeeth, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anushka Mukesh","family":"Makhija","sequence":"additional","affiliation":[{"name":"Psychiatry, Bharati Vidyapeeth, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyoti Vittaldas","family":"Shetty","sequence":"additional","affiliation":[{"name":"Psychiatry, Bharati Vidyapeeth, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,6,25]]},"reference":[{"key":"2025082802545646000_18.6.e264055.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160409"},{"key":"2025082802545646000_18.6.e264055.2","doi-asserted-by":"publisher","DOI":"10.1002\/stem.1389"},{"key":"2025082802545646000_18.6.e264055.3","doi-asserted-by":"publisher","DOI":"10.1007\/s40142-018-0137-x"},{"key":"2025082802545646000_18.6.e264055.4","doi-asserted-by":"crossref","unstructured":"Magner M , Honzik T , Tesarova M , et al . Zaburzenia psychiczne u pi\u0119ciu pacjent\u00f3wcierpi\u0105cych na zesp\u00f3\u0142 MELAS. 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