{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:01:29Z","timestamp":1779930089897,"version":"3.53.1"},"reference-count":16,"publisher":"Japanese Society of Internal Medicine","issue":"24","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2021,12,15]]},"DOI":"10.2169\/internalmedicine.7463-21","type":"journal-article","created":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T22:09:06Z","timestamp":1623449346000},"page":"3969-3974","source":"Crossref","is-referenced-by-count":4,"title":["&lt;i&gt;MFN2&lt;\/i&gt;-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations"],"prefix":"10.2169","volume":"60","author":[{"given":"Haitian","family":"Nan","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takanori","family":"Hata","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toko","family":"Fukao","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshimichi","family":"Fukao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanjing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takafumi","family":"Kurita","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Natori","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihisa","family":"Takiyama","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (<i>MFN2<\/i>) mutations. Brain 129: 2103-2118, 2006.","DOI":"10.1093\/brain\/awl174"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Z\u00fcchner S, Vance JM. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neuromolecular Med 8: 63-74, 2006.","DOI":"10.1385\/NMM:8:1-2:63"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Stuppia G, Rizzo F, Riboldi G, et al. <i>MFN2<\/i>-related neuropathies: clinical features, molecular pathogenesis and therapeutic perspectives. J Neurol Sci 356: 7-18, 2015.","DOI":"10.1016\/j.jns.2015.05.033"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Feely SM, Laura M, Siskind CE, et al. <i>MFN2<\/i> mutations cause severe phenotypes in most patients with CMT2A. Neurology 76: 1690-1696, 2011.","DOI":"10.1212\/WNL.0b013e31821a441e"},{"key":"5","doi-asserted-by":"publisher","unstructured":"5. Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 65: 197-204, 2005.","DOI":"10.1212\/01.wnl.0000168898.76071.70"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Z\u00fcchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36: 449-451, 2004.","DOI":"10.1038\/ng1341"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Wang C, Guan YZ, Cai QQ, Su W, Zhou DB, Li J. Rapidly progressive polyneuropathy in a patient with monoclonal gammopathy: a case report of POEMS syndrome and beyond. Medicine (Baltimore) 95: e3453, 2016.","DOI":"10.1097\/MD.0000000000003453"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Xie Y, Li X, Liu L, et al. <i>MFN2<\/i>-related genetic and clinical features in a cohort of Chinese CMT2 patients. J Peripher Nerv Syst 21: 38-44, 2016.","DOI":"10.1111\/jns.12159"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Bombelli F, Stojkovic T, Dubourg O, et al. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol 71: 1036-1042, 2014.","DOI":"10.1001\/jamaneurol.2014.629"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Madrid R, Guariglia SR, Haworth A, Korosh W, Gavin M, Lyon GJ. Early-onset cerebellar ataxia in a patient with CMT2A2. Cold Spring Harb Mol Case Stud 6: a005108, 2020.","DOI":"10.1101\/mcs.a005108"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Ando M, Hashiguchi A, Okamoto Y, et al. Clinical and genetic diversities of Charcot-Marie-Tooth disease with <i>MFN2<\/i> mutations in a large case study. J Peripher Nerv Syst 22: 191-199, 2017.","DOI":"10.1111\/jns.12228"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA. CMT with pyramidal features. Charcot-Marie-Tooth. Neurology 60: 696-699, 2003.","DOI":"10.1212\/01.WNL.0000048561.61921.71"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Zhu D, Kennerson ML, Walizada G, Zuchner S, Vance JM, Nicholson GA. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without <i>MFN2<\/i> mutations. Neurology 65: 496-497, 2005.","DOI":"10.1212\/01.wnl.0000171345.62270.29"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Rouzier C, Bannwarth S, Chaussenot A, et al. The <i>MFN2<\/i> gene is responsible for mitochondrial DNA instability and optic atrophy &apos;plus&apos; phenotype. Brain 135: 23-34, 2012.","DOI":"10.1093\/brain\/awr323"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Zhao J, Wu X, Wu D, et al. Embryonic surface ectoderm-specific mitofusin 2 conditional knockout induces congenital cataracts in mice. Sci Rep 8: 1522, 2018.","DOI":"10.1038\/s41598-018-19849-2"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Detmer SA, Chan DC. Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. J Cell Biol 176: 405-414, 2007.","DOI":"10.1083\/jcb.200611080"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/60\/24\/60_7463-21\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,18]],"date-time":"2021-12-18T03:19:14Z","timestamp":1639797554000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/60\/24\/60_7463-21\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,15]]},"references-count":16,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.7463-21","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,15]]},"article-number":"7463-21"}}