{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T15:03:29Z","timestamp":1784127809951,"version":"3.55.0"},"reference-count":52,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T00:00:00Z","timestamp":1781827200000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271493"],"award-info":[{"award-number":["82271493"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission, Adminitrative Commission of Zhongguancun Science Park","doi-asserted-by":"publisher","award":["Z241100007724008"],"award-info":[{"award-number":["Z241100007724008"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["CNS Neurosci Ther"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To systematically characterize the phenotypic spectrum, neuroimaging features, heteroplasmy\u2010phenotype correlation, and prognosis of the m.10191\u2009T\u2009&gt;\u2009C mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We collected and analyzed data from 52 patients (14 newly recruited; 38 from literature). Phenotypes were pre\u2010classified as Leigh syndrome (LS), Leigh\u2010like syndrome (LLS), MELAS\/LS overlap syndrome, and MELAS\u2010like syndrome. Neuroimaging data were subjected to statistical analysis to explore inter\u2010lesional associations and lesion\u2010symptom correlations. Heteroplasmy level underwent k\u2010means clustering and latent class analysis (LCA) to define data\u2010driven subgroups and model genotype\u2013phenotype correlations. Prognostic factors were evaluated through Bayesian logistic regression, and survival analysis was conducted.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The cohort exhibited phenotypic heterogeneity, dominated by LS (46.2%). Key features included epilepsy, developmental delay, and dystonia. Globus pallidus involvement frequently co\u2010occurred with midbrain and pontine lesions. Heteroplasmy level differed significantly across phenotypes. LCA identified three classes corresponding to clinical phenotypes. High heteroplasmy level, medullary involvement, and severe hyperlactatemia were associated with disease progression. Survival analysis indicated a 5\u2009year survival rate of 80.0%, with high heteroplasmy level, hypotonia, and cerebellar lesions predicting poorer survival.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>The m.10191\u2009T\u2009&gt;\u2009C mutation is linked to a continuous clinical spectrum correlated with heteroplasmy level. Specific clinical and neuroimaging features serve as valuable biomarkers for phenotypic classification and prognostic assessment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cns.70997","type":"journal-article","created":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T08:01:44Z","timestamp":1781856104000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Spectrum, Heteroplasmy\u2010Phenotype Correlation, and Prognosis of the\n                    <i>MT\u2010ND3<\/i>\n                    m.10191\u2009T\u2009&gt;\u2009C Mutation"],"prefix":"10.1002","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0548-1504","authenticated-orcid":false,"given":"Zimeng","family":"He","sequence":"first","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University, National Center for Children's Health  Beijing 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Hospital Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruoyu","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2797-5700","authenticated-orcid":false,"given":"Minhan","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunxi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University, National Center for Children's Health  Beijing 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