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Recently, frameshift variants in <jats:italic>NEFH<\/jats:italic> (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot\u2010Marie\u2010Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3\u2032 untranslated region (UTR). This study also identified a <jats:italic>de novo<\/jats:italic> c.3015_3027dup frameshift mutation predicting p.Lys1010Glnfs*57 in <jats:italic>NEFH<\/jats:italic> from a CMT2 family with an atypical clinical symptom of prominent proximal weakness. This mutation is located near the previously reported frameshift mutations, suggesting a mutational hotspot. Lower limb magnetic resonance imaging (MRI) revealed marked hyperintense signal changes in the thigh muscles compared with those in the calf muscles. Therefore, this study suggests that the stop loss and translational elongations by the 3\u2032 UTR of the <jats:italic>NEFH<\/jats:italic> mutations may be a relatively frequent genetic cause of axonal peripheral neuropathy with the specific characteristics of proximal dominant weakness.<\/jats:p>","DOI":"10.1111\/jns.12223","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T17:05:55Z","timestamp":1495731955000},"page":"200-207","source":"Crossref","is-referenced-by-count":13,"title":["Axonal Charcot\u2010Marie\u2010Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3\u2032 UTR in <i>NEFH<\/i>"],"prefix":"10.1111","volume":"22","author":[{"given":"Da Eun","family":"Nam","sequence":"first","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung\u2010Chul","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Ewha Womans University School of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Da Hye","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun Seong","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung\u2010Yum","family":"Seo","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwang Hoon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song Ja","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Hyun","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"},{"name":"Department of Neurology, and Stem Cell &amp; Regenerative Medicine Institute Samsung Medical Center, Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung\u2010Ok","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Neurology, and Stem Cell &amp; Regenerative Medicine Institute Samsung Medical Center, Sungkyunkwan University School of Medicine  Seoul Korea"},{"name":"Department of Health Sciences and Technology Samsung Advanced Institute for Health Science &amp; Technology, Sungkyunkwan University  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24575"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.157"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7985-z"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2837"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0430-1"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.012"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/375061a0"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1757"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308826"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.5.329"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24612"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.10.3472"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22959"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22569"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.014"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg059"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1250"},{"key":"e_1_2_6_19_1","first-page":"212","volume-title":"Human Genetics\u2010Concepts and Applications","author":"Lewis R","year":"2015"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.022"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.179"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12594"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv311"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000758"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjns.12223","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12223","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T02:57:40Z","timestamp":1696215460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1111\/jns.12223"],"URL":"https:\/\/doi.org\/10.1111\/jns.12223","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9]]}}}