{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T17:08:11Z","timestamp":1788368891371,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,10,24]],"date-time":"2017-10-24T00:00:00Z","timestamp":1508803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>This study analyzes and describes atypical presentations of Charcot\u2013Marie\u2013Tooth disease type 4C (CMT4C).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of <jats:italic>SH3TC2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients manifested scoliosis, and nerve conduction study indicated results in the demyelinating range. All patients exhibited signs of motor impairment within the first years of life. We describe 2 or more different genetic diseases in the same patient, atypical presentations of CMT, and 3 new mutations in CMT4C patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>A new era of unbiased genetic testing has led to this small case series of individuals with CMT4C and highlights the recognition of different genetic diseases in CMT4C patients for accurate diagnosis, genetic risk identification, and therapeutic intervention. The phenotype of CMT4C, in addition, appears to be enriched by a number of features unusual for the broad CMT category. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>57<\/jats:bold>: 749\u2013755, 2018<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25981","type":"journal-article","created":{"date-parts":[[2017,10,5]],"date-time":"2017-10-05T16:02:41Z","timestamp":1507219361000},"page":"749-755","source":"Crossref","is-referenced-by-count":22,"title":["Charcot\u2013Marie\u2013Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges"],"prefix":"10.1002","volume":"57","author":[{"given":"Nivedita U.","family":"Jerath","sequence":"first","affiliation":[{"name":"Department of Neurology University of Iowa Carver College of Medicine 200 Hawkins Drive Iowa City Iowa 52242 USA"},{"name":"Department of Neurology University of Florida PO Box 100236 Gainesville FL 32610"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ami","family":"Mankodi","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas O.","family":"Crawford","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Johns Hopkins University Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Grunseich","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasna","family":"Baloui","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Neuroscience Karolinska Institutet Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chioma","family":"Nnamdi\u2010Emeratom","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice B.","family":"Schindler","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"Heiman\u2010Patterson","sequence":"additional","affiliation":[{"name":"Department of Neurology Drexel University College of Medicine Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Chrast","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Neuroscience Karolinska Institutet Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Iowa Carver College of Medicine 200 Hawkins Drive Iowa City Iowa 52242 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00638.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2016.0171"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12175"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/379525"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq168"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.05.005"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24640"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000156517.00615.A3"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.139.6.1495"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034132"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0908094"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/210401"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.15"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6213-8"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0822-7"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep41937"},{"key":"e_1_2_7_19_1","doi-asserted-by":"crossref","first-page":"1572","DOI":"10.1182\/blood.V91.5.1572","article-title":"Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin\u2014but not botrocetin\u2010mediated binding of von Willebrand factor to platelets","volume":"91","author":"Hillery CA","year":"1998","journal-title":"Blood"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199212103272406"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-92"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2012.00382.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-190"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.002"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.006"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001756"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0905523106"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp565"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2016.04.003"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/glia.22493"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.25981","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.25981","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:29:27Z","timestamp":1695572967000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.25981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,24]]},"references-count":29,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1002\/mus.25981"],"URL":"https:\/\/doi.org\/10.1002\/mus.25981","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,24]]}}}