{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T16:13:29Z","timestamp":1784564009142,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82160233"],"award-info":[{"award-number":["82160233"]}],"id":[{"id":"10.13039\/501100001809","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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia. Multiple genes are associated with complex III defects. Among them, the mutation of TTC19 is a rare subtype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We screened a Chinese boy with weakness of limbs and his non\u2010consanguineous parents by whole exome sequencing and targeted sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report a Chinese boy diagnosed with mitochondrial complex III defect type 2 carrying a homozygous variant (c.719\u2010732del, p.Leu240Serfs*17) of the TTC19 gene. According to the genotype analysis of his family members, this is an autosomal recessive inheritance. We provide his clinical manifestation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A new type of TTC19 mutation (c.719\u2010732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII\u2010deficient diseases.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cns.14425","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T08:30:38Z","timestamp":1699259438000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3000-9458","authenticated-orcid":false,"given":"Xianjun","family":"Xuan","sequence":"first","affiliation":[{"name":"Department of Neurology Hangzhou Ninth People's Hospital  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Ruan","sequence":"additional","affiliation":[{"name":"Zhejiang Provincial Key Laboratory for Drug Evaluation and Clinical Research, Department of Clinical Pharmacy, the First Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunhong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology Hangzhou Ninth People's Hospital  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiyi","family":"Gao","sequence":"additional","affiliation":[{"name":"Ningbo Medical Center Lihuili Hospital  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingfei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Affiliated Hangzhou First People's Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoguang","family":"Lei","sequence":"additional","affiliation":[{"name":"First Department of Neurology, First Affiliated Hospital of Kunming Medical University Kunming Medical University  Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41580-021-00415-0"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.761"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm072"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.706823"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-091416-035426"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2016.80"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_419"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_282"},{"key":"e_1_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2018.04.003"},{"key":"e_1_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00944"},{"key":"e_1_2_2_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0254-5"},{"key":"e_1_2_2_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.7"},{"key":"e_1_2_2_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2014.00397"},{"key":"e_1_2_2_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36968"},{"key":"e_1_2_2_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-14-5"},{"key":"e_1_2_2_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0361-1"},{"key":"e_1_2_2_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.06.004"},{"key":"e_1_2_2_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0098-2997(02)00013-4"},{"key":"e_1_2_2_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)05379-3"},{"key":"e_1_2_2_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2017.06.001"},{"key":"e_1_2_2_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1811938116"},{"key":"e_1_2_2_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(90)90110-V"}],"container-title":["CNS Neuroscience &amp; 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