{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T15:04:53Z","timestamp":1785942293141,"version":"3.56.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2014,12,11]],"date-time":"2014-12-11T00:00:00Z","timestamp":1418256000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1038\/jhg.2014.102","type":"journal-article","created":{"date-parts":[[2014,12,11]],"date-time":"2014-12-11T08:57:38Z","timestamp":1418288258000},"page":"103-106","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Severe phenotypes in a Charcot\u2013Marie\u2013Tooth 1A patient with PMP22 triplication"],"prefix":"10.1038","volume":"60","author":[{"given":"Sung Min","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinho","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo Ram","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye Jin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,12,11]]},"reference":[{"key":"BFjhg2014102_CR1","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/nrneurol.2013.179","volume":"9","author":"AM Rossor,","year":"2013","unstructured":"Rossor,, A. M ., Polke, J. M ., Houlden, H . & Reilly, M. M . Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat. Rev. Neurol. 9, 562\u2013571 (2013).","journal-title":"Nat. Rev. Neurol"},{"key":"BFjhg2014102_CR2","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","volume":"66","author":"JR Lupski","year":"1991","unstructured":"Lupski, J. R ., de Oca-Luna, R. M ., Slaugenhaupt, S ., Pentao, L ., Guzzetta, V . & Trask, B. J . et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219\u2013232 (1991).","journal-title":"Cell"},{"key":"BFjhg2014102_CR3","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/0092-8674(93)90058-X","volume":"72","author":"PF Chance","year":"1993","unstructured":"Chance, P. F ., Alderson, M. K ., Leppig, K. A ., Lensch, M. W ., Matsunami, N . & Smith, B . et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143\u2013151 (1993).","journal-title":"Cell"},{"key":"BFjhg2014102_CR4","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1159\/000472166","volume":"4","author":"E Nelis","year":"1996","unstructured":"Nelis, E ., Van Broeckhoven, C ., De Jonghe, P ., L\u00f6fgren, A ., Vandenberghe, A . & Latour, P . et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet. 4, 25\u201333 (1996).","journal-title":"Eur. J. Hum. Genet"},{"key":"BFjhg2014102_CR5","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1002\/humu.9261","volume":"24","author":"BO Choi","year":"2004","unstructured":"Choi, B. O ., Lee, M. S ., Shin, S. H ., Hwang, J. H ., Choi, K. G . & Kim, W. K . et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum. Mutat. 24, 185\u2013186 (2004).","journal-title":"Hum. Mutat"},{"key":"BFjhg2014102_CR6","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/jhg.2011.20","volume":"56","author":"A Abe","year":"2011","unstructured":"Abe, A ., Numakura, C ., Kijima, K ., Hayashi, M ., Hashimoto, T . & Hayasaka, K . Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J. Hum. Genet. 56, 364\u2013368 (2011).","journal-title":"J. Hum. Genet"},{"key":"BFjhg2014102_CR7","doi-asserted-by":"publisher","first-page":"892","DOI":"10.1016\/j.ajhg.2010.05.001","volume":"86","author":"F Zhang","year":"2010","unstructured":"Zhang, F ., Seeman, P ., Liu, P ., Weterman, M. A ., Gonzaga-Jauregui, C . & Towne, C. F . et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am. J. Hum. Genet. 86, 892\u2013903 (2010).","journal-title":"Am. J. Hum. Genet"},{"key":"BFjhg2014102_CR8","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1007\/s10048-010-0272-3","volume":"12","author":"BO Choi","year":"2011","unstructured":"Choi, B. O ., Kim, N. K ., Park, S. W ., Hyun, Y. S ., Jeon, H. J . & Hwang, J. H . et al. Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement. Neurogenetics 12, 51\u201358 (2011).","journal-title":"Neurogenetics"},{"key":"BFjhg2014102_CR9","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1016\/j.ajhg.2014.01.017","volume":"94","author":"P Liu","year":"2014","unstructured":"Liu, P ., Gelowani, V ., Zhang, F ., Drory, V. E ., Ben-Shachar, S . & Roney, E . et al. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am. J. Hum. Genet. 94, 462\u2013469 (2014).","journal-title":"Am. J. Hum. Genet"},{"key":"BFjhg2014102_CR10","doi-asserted-by":"publisher","first-page":"139","DOI":"10.3988\/jcn.2012.8.2.139","volume":"8","author":"YH Kim","year":"2012","unstructured":"Kim, Y. H ., Chung, H. K ., Park, K. D ., Choi, K.-G ., Kim, S.-M . & Sunwoo, I.-N . et al. Comparison between clinical disabilities and electrophysiological values in Charcot\u2013Marie\u2013Tooth 1A patients with PMP22 duplication. J. Clin. Neurol. 8, 139\u2013145 (2012).","journal-title":"J. Clin. Neurol"},{"key":"BFjhg2014102_CR11","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1016\/j.nmd.2014.03.014","volume":"24","author":"S Mathis","year":"2014","unstructured":"Mathis, S ., Corcia, P ., Tazir, M ., Camu, W ., Magdelaine, C . & Latour, P . et al. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease. Neuromuscul. Disord. 24, 524\u2013528 (2014).","journal-title":"Neuromuscul. Disord"},{"key":"BFjhg2014102_CR12","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1093\/brain\/120.5.813","volume":"120","author":"N Birouk","year":"1997","unstructured":"Birouk, N ., Gouider, R ., Le Guern, E ., Gugenheim, M ., Tardieu, S . & Maisonobe, T . et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120, 813\u2013823 (1997).","journal-title":"Brain"},{"key":"BFjhg2014102_CR13","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","volume":"64","author":"ME Shy","year":"2005","unstructured":"Shy, M. E ., Blake, J ., Krajewski, K ., Fuerst, D. R ., Laura, M . & Hahn, A. F . et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64, 1209\u20131214 (2005).","journal-title":"Neurology"},{"key":"BFjhg2014102_CR14","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1093\/hmg\/2.12.2031","volume":"2","author":"F Palau","year":"1993","unstructured":"Palau, F ., L\u00f6fgren, A ., De Jonghe, P ., Bort, S ., Nelis, E . & Sevilla, T . et al. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum. Mol. Genet. 2, 2031\u20132035 (1993).","journal-title":"Hum. Mol. Genet"},{"key":"BFjhg2014102_CR15","first-page":"472","volume":"58","author":"IP Blair","year":"1996","unstructured":"Blair, I. P ., Nash, J ., Gordon, M. J . & Nicholson, G. A . Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am. J. Hum. Genet. 58, 472\u2013476 (1996).","journal-title":"Am. J. Hum. Genet"},{"key":"BFjhg2014102_CR16","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1093\/hmg\/7.1.141","volume":"7","author":"J Lopes","year":"1998","unstructured":"Lopes, J ., Ravis\u00e9, N ., Vandenberghe, A ., Palau, F ., Ionasescu, V . & Mayer, M . et al. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum. Mol. Genet. 7, 141\u2013148 (1998).","journal-title":"Hum. Mol. Genet"},{"key":"BFjhg2014102_CR17","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S1016-8478(23)07387-9","volume":"23","author":"BO Choi","year":"2007","unstructured":"Choi, B. O ., Kim, J ., Lee, K. L ., Yu, J. S ., Hwang, J. H . & Chung, K. W . Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR. Mol. Cells 23, 39\u201348 (2007).","journal-title":"Mol. Cells"},{"key":"BFjhg2014102_CR18","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1093\/hmg\/5.1.103","volume":"5","author":"E LeGuern","year":"1996","unstructured":"LeGuern, E ., Gouider, R ., Ravise, N ., Lopes, J ., Tardieu, S . & Gugenheim, M . et al. A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? Hum. Mol. Genet. 5, 103\u2013106 (1996).","journal-title":"Hum. Mol. Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg2014102.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2014102","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2014102.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T20:01:57Z","timestamp":1717617717000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg2014102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,11]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["BFjhg2014102"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2014.102","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,11]]},"assertion":[{"value":"23 September 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 November 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}