{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:00:27Z","timestamp":1790834427795,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Charcot\u2013Marie\u2013Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in the neurofilament light polypeptide (<jats:italic>NEFL<\/jats:italic>) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 Korean CMT families underwent gene sequencing, and we investigated the clinical, genetic, and neuroimaging spectra of <jats:italic>NEFL<\/jats:italic>\u2010related CMT patients. Ten <jats:italic>NEFL<\/jats:italic> mutations in 17 families (1.49%) were identified, of which three (p.L312P, p.Y443N, and p.K467N) were novel. Eight de novo cases were identified at a rate of 0.47 based on a cosegregation analysis. The age of onset was \u22643\u00a0years in five cases (13.5%). The patients revealed additional features including delayed walking, ataxia, dysphagia, dysarthria, dementia, ptosis, waddling gait, tremor, hearing loss, and abnormal visual evoked potential. Signs of ataxia were found in 26 patients (70.3%). In leg MRI analyses, various degrees of intramuscular fat infiltration were found. All compartments were evenly affected in CMT1F patients. The anterior and anterolateral compartments were affected in CMT2E, and the posterior compartment was affected in CMTDIG. Thus, <jats:italic>NEFL<\/jats:italic>\u2010related CMT patients showed phenotypic heterogeneities. This study's clinical, genetic, and neuroimaging results could be helpful in the evaluation of novel <jats:italic>NEFL<\/jats:italic> variants and differential diagnosis against other CMT subtypes.<\/jats:p>","DOI":"10.1002\/mgg3.1870","type":"journal-article","created":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T10:20:14Z","timestamp":1642587614000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Phenotypic heterogeneity in patients with <i>NEFL<\/i>\u2010related Charcot\u2013Marie\u2013Tooth disease"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7636-3639","authenticated-orcid":false,"given":"Hye Jin","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Health Sciences and Technology SAIHST Sungkyunkwan University  Seoul Korea"},{"name":"Department of Neurology Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang Beom","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology Kyung Hee University Hospital at Gangdong Kyung Hee University School of Medicine  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyun Su","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Radiology Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Mi","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Neurology Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Hong","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah Jin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Si On","family":"Lim","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":"Stem Cell &amp; Regenerative Medicine Institute Samsung Medical Center  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Bin","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Biochemistry College of Medicine Dong\u2010A University  Busan Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0363-8432","authenticated-orcid":false,"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5459-1772","authenticated-orcid":false,"given":"Byung\u2010Ok","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Technology SAIHST Sungkyunkwan University  Seoul Korea"},{"name":"Department of Neurology Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"},{"name":"Stem Cell &amp; Regenerative Medicine Institute Samsung Medical Center  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2008.13"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu736"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.303"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7709-4"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7985-z"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.4.1074"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22143"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9261"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.106"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl284"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308826"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.05.005"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-199407000-00014"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12102"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-315077"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50797"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg059"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-018-5958-1"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13258-020-00933-9"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24824"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029393"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12092"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/302962"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.7.966"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302451"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-94"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.2340\/16501977-0235"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00148"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg179"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.179"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12594"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12084"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22166"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0333-8"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a9f56a"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8027.2002.02028.x"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-318839"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.104729"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21728"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1870","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1870","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1870","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T04:04:55Z","timestamp":1693109095000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,19]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1002\/mgg3.1870"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1870","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,19]]},"assertion":[{"value":"2021-03-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1870"}}