{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T01:46:45Z","timestamp":1782870405381,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,5,14]],"date-time":"2015-05-14T00:00:00Z","timestamp":1431561600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Charcot\u2010Marie\u2010Tooth type 4C (CMT4C) is an autosomal recessive dysmyelinating neuropathy characterized by precocious and rapidly progressive scoliosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients in a French\u2010Canadian kindred were evaluated with clinical examination, electrophysiologic study, and genomic DNA extraction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Six of 10 siblings were clinically symptomatic with supportive electrophysiologic features. The proband presented with regional side\u2010to\u2010side sensorimotor asymmetry, typical pes cavus without obvious scoliosis, and unremarkable plain films of the spine. Affected siblings all share symptoms of foot deformity but have variable onset of neuropathic symptoms, degree of extremity weakness, progression of symptoms, and, most notably, evidence of scoliosis. DNA sequence analysis revealed a novel combination of 2 known recessive mutations, p.R904X and p.R954X, in the <jats:italic>SH3TC2<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A broad spectrum of phenotypes should be considered in the possible diagnosis of CMT4C. The absence of scoliosis or late\u2010onset symptoms should not exclude <jats:italic>SH3TC2<\/jats:italic> from the list of candidate genes under consideration. Age of onset and clinical features were variable and suggest that polygenic factors contribute to the final phenotype. <jats:italic>Muscle Nerve<\/jats:italic> 52:444\u2013449, 2015<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.24640","type":"journal-article","created":{"date-parts":[[2015,3,3]],"date-time":"2015-03-03T23:52:57Z","timestamp":1425426777000},"page":"444-449","source":"Crossref","is-referenced-by-count":24,"title":["Phenotypic variability of CMT4C in a French\u2010Canadian kindred"],"prefix":"10.1002","volume":"52","author":[{"given":"Talia L.","family":"Varley","sequence":"first","affiliation":[{"name":"Department of Medicine Neuromuscular Disease Clinic McMaster University Hamilton, HSC Room 2H22, 1200 Main Street West Ontario Canada L8N 3Z5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre R.","family":"Bourque","sequence":"additional","affiliation":[{"name":"Division of Neurology University of Ottawa Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven K.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Medicine Neuromuscular Disease Clinic McMaster University Hamilton, HSC Room 2H22, 1200 Main Street West Ontario Canada L8N 3Z5"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00638.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.66.5.569"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2012.00382.x"},{"key":"e_1_2_6_5_1","unstructured":"The Mutation Database of Inherited Peripheral Neuropathieshttp:\/\/www.Molgen.ua.ac.be\/CMTMutations\/Last accessed November 20 2012."},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.04.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.867"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034132"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00774.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1685"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/379525"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1999.tb08608.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230225.19797.93"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.05.005"},{"key":"e_1_2_6_15_1","volume-title":"Aid to the examination of the peripheral nervous system","author":"Medical Research Council MR","year":"1976"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.3.712"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.006"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0b013e3181573d4e"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp565"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24640","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24640","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24640","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T23:10:38Z","timestamp":1696374638000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,14]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1002\/mus.24640"],"URL":"https:\/\/doi.org\/10.1002\/mus.24640","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,14]]}}}