{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T07:00:28Z","timestamp":1775199628646,"version":"3.50.1"},"reference-count":48,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC2700904"],"award-info":[{"award-number":["2021YFC2700904"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171394"],"award-info":[{"award-number":["82171394"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To explore the clinical characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke\u2010like episodes (MELAS) caused by mitochondrial DNA\u2010encoded complex I subunit (<jats:italic>mt\u2010ND<\/jats:italic>) variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this retrospective study, the clinical, myopathological and brain MRI features of patients with MELAS caused by <jats:italic>mt\u2010ND<\/jats:italic> variants (MELAS\u2010mtND) were collected and compared with those of MELAS patients carrying the m.3243A\u2009&gt;\u2009G variant (MELAS\u2010A3243G).<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>A total of 18 MELAS\u2010mtND patients (female: 7; median age: 24.5\u2009years) represented 15.9% (<jats:italic>n<\/jats:italic>\u2009=\u2009113) of all patients with MELAS caused by mtDNA variants in our neuromuscular center from January 2012 to June 2022. In this MELAS\u2010mtND cohort, the two most common variants were m.10191\u2009T\u2009&gt;\u2009C (4\/18, 22.2%) and m.13513\u2009G\u2009&gt;\u2009A (3\/18, 16.7%). The most frequent symptoms were seizures (14\/18, 77.8%) and muscle weakness (11\/18, 61.1%). Compared with 87 MELAS\u2010A3243G patients, MELAS\u2010mtND patients were significantly more likely to have a variant that was absent in blood cells (40% vs. 1.4%). Furthermore, MELAS\u2010mtND patients had a significantly lower MDC score (7.8\u2009\u00b1\u20092.7 vs. 9.8\u2009\u00b1\u20091.9); less hearing loss (27.8% vs. 54.0%), diabetes (11.1% vs. 37.9%), and migraine (33.3% vs. 62.1%); less short stature (males \u2264 165\u2009cm; females \u2264 155\u2009cm; 23.1% vs. 60.8%) and higher body mass index (20.4\u2009\u00b1\u20092.5 vs. 17.8\u2009\u00b1\u20092.7). MELAS\u2010mtND patients had significantly more normal muscle pathology (31.3% vs. 4.1%) and fewer RRFs\/RBFs (62.5% vs. 91.9%), COX\u2010deficient fibers\/blue fibers (25.0% vs. 85.1%) and SSVs (50.0% vs. 81.1%). Moreover, brain MRI evaluated at the first stroke\u2010like episode showed significantly more small cortical lesions in MELAS\u2010mtND patients (66.7% vs. 12.2%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our results suggested that MELAS\u2010mtND patients have distinct clinical, myopathological and brain MRI features compared with MELAS\u2010A3243G patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51787","type":"journal-article","created":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T04:55:37Z","timestamp":1684904137000},"page":"1035-1045","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A different pattern of clinical, muscle pathology and brain <scp>MRI<\/scp> findings in <scp>MELAS<\/scp> with <scp><i>mt\u2010ND<\/i><\/scp> variants"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7585-384X","authenticated-orcid":false,"given":"Wei","family":"Wang","sequence":"first","affiliation":[{"name":"Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine Shandong University  Jinan Shandong 250012 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuying","family":"Zhao","sequence":"additional","affiliation":[{"name":"Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine Shandong University  Jinan Shandong 250012 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuebi","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurology First Affiliated Hospital of Wenzhou Medical University  Nanbaixiang Street, Ouhai District Wenzhou 325000 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