{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T16:06:06Z","timestamp":1775059566578,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"publisher","award":["Z151100003915126"],"award-info":[{"award-number":["Z151100003915126"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Progressive external ophthalmoplegia (PEO) is a common subtype of mitochondrial encephalomyopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The study aimed to investigate the relationship between mitochondrial DNA (mtDNA) abnormalities, muscle pathology, and clinical manifestations in Chinese patients with single large\u2010scale mtDNA deletion presenting with PEO.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a retrospective single\u2010center study. Patients with PEO who had a single large deletion in mitochondrial DNA were included in this study. The associations were analyzed between mtDNA deletion patterns, myopathological changes, and clinical characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, 155 patients with mitochondrial PEO carrying single large\u2010scale mtDNA mutations were enrolled, including 137 chronic progressive external ophthalmoplegia (CPEO) and 18 Kearns\u2013Sayre syndrome (KSS) patients. The onset ages were 9.61\u2009\u00b1\u20094.12 in KSS and 20.15\u2009\u00b1\u20099.06 in CPEO. The mtDNA deletions ranged from 2225\u2009bp to 9131\u2009bp, with m.8470_13446del being the most common. The KSS group showed longer deletions than the CPEO group (<jats:italic>p<\/jats:italic>\u2009=\u20090.004). Additionally, a higher number of deleted genes encoding respiratory chain complex subunits (<jats:italic>p<\/jats:italic>\u2009=\u20090.001) and tRNA genes (<jats:italic>p<\/jats:italic>\u2009=\u20090.009) were also observed in the KSS group. A weak negative correlation between the mtDNA deletion size and ages of onset (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, <jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.369) was observed. The proportion of ragged red fibers, ragged blue fibers, and cytochrome <jats:italic>c<\/jats:italic> negative fibers did not correlate significantly with onset ages (<jats:italic>p<\/jats:italic>\u2009&gt;\u20090.05). However, a higher percentage of abnormal muscle fibers corresponds to an increased prevalence of exercise intolerance, limb muscle weakness, dysphagia, and cerebellar ataxia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We reported a large Chinese cohort consisting of mitochondrial PEO patients with single large\u2010scale mtDNA deletions. Our results demonstrated that the length and locations of mtDNA deletions may influence onset ages and clinical phenotypes. The severity of muscle pathology could not only indicate diagnosis but also may be associated with clinical manifestations beyond the extraocular muscles.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2328","type":"journal-article","created":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T06:49:20Z","timestamp":1701240560000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial <scp>DNA<\/scp> single large deletions"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1006-741X","authenticated-orcid":false,"given":"Yang","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"},{"name":"Beijing Key Laboratory of Neurovascular Disease Discovery  Beijing 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