{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T16:44:55Z","timestamp":1792687495981,"version":"4.5.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T00:00:00Z","timestamp":1653350400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T00:00:00Z","timestamp":1653350400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Genom"],"published-print":{"date-parts":[[2022,8]]},"DOI":"10.1007\/s13258-022-01253-w","type":"journal-article","created":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T09:02:31Z","timestamp":1653382951000},"page":"1007-1016","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation"],"prefix":"10.1007","volume":"44","author":[{"given":"Jaehong","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0179-9542","authenticated-orcid":false,"given":"Hyun Su","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3978-1855","authenticated-orcid":false,"given":"Hye Mi","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiah","family":"kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4421-1793","authenticated-orcid":false,"given":"Soo Hyun","family":"Nam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na Young","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah Jin","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Hee","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8225-3922","authenticated-orcid":false,"given":"Sang Beom","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0363-8432","authenticated-orcid":false,"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5459-1772","authenticated-orcid":false,"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,5,24]]},"reference":[{"key":"1253_CR1","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1002\/ana.20094","volume":"55","author":"CL Bennett","year":"2004","unstructured":"Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD,\u00a0 Chance PF (2004) SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol 55:713\u2013720.\u00a0https:\/\/doi.org\/10.1002\/ana.20094","journal-title":"Ann Neurol"},{"key":"1253_CR2","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/j.jns.2014.05.029","volume":"343","author":"P Ciotti","year":"2014","unstructured":"Ciotti P, Luigetti M, Geroldi A, Capponi S, Pezzini I, Gulli R, Pazzaglia C, Padua L, Massa R, Mandich P et al (2014) A novel LITAF\/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. J Neurol Sci 343:183\u2013186","journal-title":"J Neurol Sci"},{"key":"1253_CR3","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1002\/mus.26352","volume":"59","author":"KMD Cornett","year":"2019","unstructured":"Cornett KMD, Wojciechowski E, Sman AD, Walker T, Menezes MP, Bray P, Halaki M, Burns J, Group FS (2019) Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease. Muscle Nerve 59:213\u2013217","journal-title":"Muscle Nerve"},{"key":"1253_CR4","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1002\/ana.25804","volume":"88","author":"JR Dahlqvist","year":"2020","unstructured":"Dahlqvist JR, Widholm P, Leinhard OD, Vissing J (2020) MRI in neuromuscular diseases: an emerging diagnostic tool and biomarker for prognosis and efficacy. Ann Neurol 88:669\u2013681","journal-title":"Ann Neurol"},{"key":"1253_CR5","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1093\/brain\/awh693","volume":"129","author":"E Gallardo","year":"2006","unstructured":"Gallardo E, Garcia A, Combarros O, Berciano J (2006) Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 129:426\u2013437","journal-title":"Brain"},{"key":"1253_CR6","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1007\/s10072-019-04219-1","volume":"41","author":"L Gentile","year":"2020","unstructured":"Gentile L, Russo M, Fabrizi GM, Taioli F, Ferrarini M, Testi S, Alfonzo A, Aguennouz M, Toscano A, Vita G, Mazzeo A (2020) Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. Neurol Sci 41:1239\u20131243","journal-title":"Neurol Sci"},{"key":"1253_CR7","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1097\/00003086-199407000-00014","volume":"304","author":"D Goutallier","year":"1994","unstructured":"Goutallier D, Postel JM, Bernageau J, Lavau L, Voisin MC (1994) Fatty muscle degeneration in cuff ruptures. Pre- and postoperative evaluation by CT scan. Clin Orthop Relat Res 304:78\u201383","journal-title":"Clin Orthop Relat Res"},{"key":"1253_CR8","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1111\/ene.13239","volume":"24","author":"R Guimaraes-Costa","year":"2017","unstructured":"Guimaraes-Costa R, Iancu Ferfoglia R, Leonard-Louis S, Ziegler F, Magy L, Fournier E, Dubourg O, Bouche P, Maisonobe T, Lacour A et al (2017) Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF\/SIMPLE mutations: a study of 18 patients. Eur J Neurol 24:530\u2013538","journal-title":"Eur J Neurol"},{"key":"1253_CR9","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1002\/mus.25600","volume":"56","author":"NU Jerath","year":"2017","unstructured":"Jerath NU, Shy ME (2017) Charcot-Marie-Tooth disease type 1C: clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf\/Simple mutation. Muscle Nerve 56:1092\u20131095","journal-title":"Muscle Nerve"},{"key":"1253_CR10","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1186\/s12920-021-01019-5","volume":"14","author":"S Kanwal","year":"2021","unstructured":"Kanwal S, Choi YJ, Lim SO, Choi HJ, Park JH, Nuzhat R, Khan A, Perveen S, Choi BO, Chung KW (2021) Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease. BMC Med Genomics 14:174","journal-title":"BMC Med Genomics"},{"key":"1253_CR11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0103454","volume":"9","author":"AF Lacerda","year":"2014","unstructured":"Lacerda AF, Hartjes E, Brunetti CR (2014) LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome\/lysosome to the mitochondria. PLoS\u00a0One 9:e103454","journal-title":"PLoS\u00a0One"},{"key":"1253_CR12","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1111\/j.1085-9489.2006.00080.x","volume":"11","author":"P Latour","year":"2006","unstructured":"Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A et al (2006) SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst 11:148\u2013155","journal-title":"J Peripher Nerv Syst"},{"key":"1253_CR13","doi-asserted-by":"publisher","first-page":"3319","DOI":"10.1242\/jcs.087114","volume":"124","author":"SM Lee","year":"2011","unstructured":"Lee SM, Olzmann JA, Chin LS, Li L (2011) Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. J Cell Sci 124:3319\u20133331","journal-title":"J Cell Sci"},{"key":"1253_CR14","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1083\/jcb.201204137","volume":"199","author":"SM Lee","year":"2012","unstructured":"Lee SM, Chin LS, Li L (2012) Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking. J Cell Biol 199:799\u2013816","journal-title":"J Cell Biol"},{"key":"1253_CR15","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.1093\/hmg\/ddt022","volume":"22","author":"SM Lee","year":"2013","unstructured":"Lee SM, Sha D, Mohammed AA, Asress S, Glass JD, Chin LS, Li L (2013) Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C. Hum Mol Genet 22:1755\u20131770","journal-title":"Hum Mol Genet"},{"key":"1253_CR16","doi-asserted-by":"publisher","first-page":"1472","DOI":"10.1002\/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#","volume":"23","author":"RA Lewis","year":"2000","unstructured":"Lewis RA, Sumner AJ, Shy ME (2000) Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. Muscle Nerve 23:1472\u20131487","journal-title":"Muscle Nerve"},{"key":"1253_CR17","doi-asserted-by":"publisher","first-page":"2464","DOI":"10.1128\/MCB.00300-15","volume":"35","author":"W Li","year":"2015","unstructured":"Li W, Zhu H, Zhao X, Brancho D, Liang Y, Zou Y, Bennett C, Chow CW (2015) Dysregulated inflammatory signaling upon Charcot-Marie-Tooth Type 1C mutation of SIMPLE protein. Mol Cell Biol 35:2464\u20132478","journal-title":"Mol Cell Biol"},{"key":"1253_CR18","doi-asserted-by":"publisher","first-page":"21247","DOI":"10.1073\/pnas.1111492108","volume":"108","author":"JC Merrill","year":"2011","unstructured":"Merrill JC, You J, Constable C, Leeman SE, Amar S (2011) Whole-body deletion of LPS-induced TNF-alpha factor (LITAF) markedly improves experimental endotoxic shock and inflammatory arthritis. Proc Natl Acad Sci USA 108:21247\u201321252","journal-title":"Proc Natl Acad Sci USA"},{"key":"1253_CR19","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/S1474-4422(15)00242-2","volume":"15","author":"JM Morrow","year":"2016","unstructured":"Morrow JM, Sinclair CD, Fischmann A, Machado PM, Reilly MM, Yousry TA, Thornton JS, Hanna MG (2016) MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol 15:65\u201377","journal-title":"Lancet Neurol"},{"key":"1253_CR20","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1111\/j.1529-8027.2011.00350.x","volume":"16","author":"SM Murphy","year":"2011","unstructured":"Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D (2011) Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst 16:191\u2013198","journal-title":"J Peripher Nerv Syst"},{"key":"1253_CR21","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1136\/jnnp-2012-302451","volume":"83","author":"SM Murphy","year":"2012","unstructured":"Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H et al (2012) Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 83:706\u2013710","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1253_CR22","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1385\/NMM:8:1-2:3","volume":"8","author":"D Pareyson","year":"2006","unstructured":"Pareyson D, Scaioli V, Laura M (2006) Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 8:3\u201322","journal-title":"Neuromolecular Med"},{"key":"1253_CR23","doi-asserted-by":"publisher","first-page":"665","DOI":"10.2340\/16501977-0235","volume":"40","author":"T Paternostro-Sluga","year":"2008","unstructured":"Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, Bittner C, Fialka-Moser V (2008) Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med 40:665\u2013671","journal-title":"J Rehabil Med"},{"key":"1253_CR24","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1007\/s00415-014-7248-4","volume":"261","author":"AL Pelayo-Negro","year":"2014","unstructured":"Pelayo-Negro AL, Gallardo E, Garcia A, Sanchez-Juan P, Infante J, Berciano J (2014) Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. J Neurol 261:675\u2013685","journal-title":"J Neurol"},{"key":"1253_CR25","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/nrneurol.2013.179","volume":"9","author":"AM Rossor","year":"2013","unstructured":"Rossor AM, Polke JM, Houlden H, Reilly MM (2013) Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 9:562\u2013571","journal-title":"Nat Rev Neurol"},{"key":"1253_CR26","doi-asserted-by":"publisher","first-page":"1518","DOI":"10.1002\/glia.22371","volume":"60","author":"C Somandin","year":"2012","unstructured":"Somandin C, Gerber D, Pereira JA, Horn M, Suter U (2012) LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease. Glia 60:1518\u20131528","journal-title":"Glia"},{"key":"1253_CR27","doi-asserted-by":"publisher","first-page":"13","DOI":"10.3390\/genes5010013","volume":"5","author":"V Timmerman","year":"2014","unstructured":"Timmerman V, Strickland AV, Zuchner S (2014) Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success. Genes (basel) 5:13\u201332","journal-title":"Genes (basel)"},{"key":"1253_CR28","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1111\/j.1468-1331.2009.02930.x","volume":"17","author":"PY Van den Bergh","year":"2010","unstructured":"Van den Bergh PY, Hadden RD, Bouche P, Cornblath DR, Hahn A, Illa I, Koski CL, L\u00e9ger JM, Nobile-Orazio E, van Schaik IN et al (2010) European Federation of Neurological Societies\/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society\u2014first revision. Eur J Neurol 17:356\u2013363","journal-title":"Eur J Neurol"},{"issue":"1619\u20131637","key":"1253_CR29","first-page":"s1611","volume":"24","author":"H Zhu","year":"2013","unstructured":"Zhu H, Guariglia S, Yu RY, Li W, Brancho D, Peinado H, Lyden D, Salzer J, Bennett C, Chow CW (2013) Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. Mol Biol Cell 24(1619\u20131637):s1611-1613","journal-title":"Mol Biol Cell"}],"container-title":["Genes &amp; Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01253-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13258-022-01253-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01253-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T17:53:01Z","timestamp":1657561981000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13258-022-01253-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,24]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["1253"],"URL":"https:\/\/doi.org\/10.1007\/s13258-022-01253-w","relation":{},"ISSN":["1976-9571","2092-9293"],"issn-type":[{"value":"1976-9571","type":"print"},{"value":"2092-9293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,24]]},"assertion":[{"value":"14 November 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 March 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no competing interests to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This study was approved by the Institutional Review Boards of Sungkyunkwan University, Samsung Medical Center (2014\u201308-057\u2013002), and Kongju National University (KNU-IRB-2018\u201362). Written informed consent was obtained from all participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Patient consent for publication"}}]}}