{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:13:47Z","timestamp":1787015627442,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,3,14]],"date-time":"2017-03-14T00:00:00Z","timestamp":1489449600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009580","name":"Chinese PLA General Hospital","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100009580","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,3]]},"abstract":"Abstract<\/jats:title>\n \n Charcot\u2010Marie\u2010Tooth disease (\n CMT<\/jats:styled-content>\n ) is a common hereditary motor and sensory neuropathy. Epidemiological data for Chinese\n CMT<\/jats:styled-content>\n patients are few. This study aimed to analyze the electrophysiological and genetic characteristics of Chinese Han patients. A total of 106 unrelated patients with the clinical diagnosis of\n CMT<\/jats:styled-content>\n were included. Clinical examination, nerve conduction studies (\n NCS<\/jats:styled-content>\n ), next\u2010generation sequencing (\n NGS<\/jats:styled-content>\n ), and bioinformatic analyses were performed. Genetic testing was performed for 82 patients; 27 (33%) patients carried known\n CMT<\/jats:styled-content>\n \u2010associated gene mutations.\n \n PMP22<\/jats:styled-content>\n <\/jats:italic>\n duplication was detected in 10 (12%) patients and\n \n GJB1<\/jats:styled-content>\n <\/jats:italic>\n mutations in 9 (11%) patients. The mutation rate was higher in patients with a positive family history than in the sporadic cases (50% vs. 27%, p < 0.05). Six novel\n CMT<\/jats:styled-content>\n \u2010associated gene mutations including\n \n BSCL2<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 461C<\/jats:styled-content>\n >T),\n \n LITAF<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 32C<\/jats:styled-content>\n >G),\n \n MFN2<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 497C<\/jats:styled-content>\n >T),\n \n GARS<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 794C<\/jats:styled-content>\n >T),\n \n NEFL<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 280C<\/jats:styled-content>\n >T), and\n \n MPZ<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 440T<\/jats:styled-content>\n >C) were discovered. All except the\n \n LITAF<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 32C<\/jats:styled-content>\n >G) mutation were identified as \u201cdisease causing\u201d via bioinformatic analyses. In this Chinese Han population, the frequency of\n \n PMP22<\/jats:styled-content>\n <\/jats:italic>\n gene duplication in those with\n CMT1<\/jats:styled-content>\n was slightly (50% vs. 70%\u201380%) less than in Western\/Caucasian populations. The novel\n CMT<\/jats:styled-content>\n \u2010associated gene mutations broaden the mutation diversity of\n CMT1<\/jats:styled-content>\n .\n NGS<\/jats:styled-content>\n should be considered for genetic analyses in\n CMT<\/jats:styled-content>\n patients.\n <\/jats:p>","DOI":"10.1111\/jns.12195","type":"journal-article","created":{"date-parts":[[2016,11,8]],"date-time":"2016-11-08T10:43:16Z","timestamp":1478601796000},"page":"13-18","source":"Crossref","is-referenced-by-count":19,"title":["Clinical and genetic spectra of Charcot\u2010Marie\u2010Tooth disease in Chinese Han patients"],"prefix":"10.1111","volume":"22","author":[{"given":"Bo","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Neurology Chinese PLA General Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaohui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology Chinese PLA General Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Ling","sequence":"additional","affiliation":[{"name":"Department of Neurology Chinese PLA General Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology Chinese PLA General Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xusheng","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology Chinese PLA General Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.20"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmrj.2013.08.611"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308826"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.05.005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.2.259"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.15"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2012.09.030"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302962"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1147"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302451"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-010-0158-7"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.158295"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.179"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.11.011"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22166"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a9f56a"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000232481.96287.89"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.31"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.10.013"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.10.007"},{"key":"e_1_2_6_23_1","first-page":"1809","article-title":"The 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