{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T03:45:11Z","timestamp":1769744711620,"version":"3.49.0"},"reference-count":45,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,9,5]],"date-time":"2017-09-05T00:00:00Z","timestamp":1504569600000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"publisher","award":["NRF\u20102014R1A2A2A01004240"],"award-info":[{"award-number":["NRF\u20102014R1A2A2A01004240"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"publisher","award":["NRF\u20102014R1A2A2A01003164"],"award-info":[{"award-number":["NRF\u20102014R1A2A2A01003164"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the gap junction protein beta 1 gene (<jats:italic>GJB1<\/jats:italic>) cause X\u2010linked Charcot\u2010Marie\u2010Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed. The frequency of CMTX1 was 9.6% of total Korean CMT family and was 14.8% when calculated within genetically identified cases. Among 67 male and 61 female patients, 22 females were asymptomatic. A high\u2010arched foot, ataxia, and tremor were observed in 87%, 41%, and 35% of the patients, respectively. In the male patients, functional disability scale, CMT neuropathy score, and compound muscle action potential of the median\/ulnar nerves were more severely affected than in the female patients. This study provides a comprehensive summary of the clinical features and spectrum of GJB1 gene mutations in Korean CMTX1 patients.<\/jats:p>","DOI":"10.1111\/jns.12217","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T19:47:41Z","timestamp":1493322461000},"page":"172-181","source":"Crossref","is-referenced-by-count":12,"title":["Clinical characterization and genetic analysis of Korean patients with X\u2010linked Charcot\u2010Marie\u2010Tooth disease type 1"],"prefix":"10.1111","volume":"22","author":[{"given":"Young B.","family":"Hong","sequence":"first","affiliation":[{"name":"Stem Cell &amp; Regenerative Medicine Institute Samsung Medical Center  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin\u2010Mo","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology College of Medicine, Dongguk University  Gyeongju Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin 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