{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T12:05:53Z","timestamp":1769342753985,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T00:00:00Z","timestamp":1479859200000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Charcot\u2010Marie\u2010Tooth disease type 4C (<jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>4C) is an autosomal recessive demyelinating form of <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content> characterized clinically by early onset and severe spinal deformities, and is caused by mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>3<jats:styled-content style=\"fixed-case\">TC<\/jats:styled-content>2<\/jats:italic>. We describe the case of a 10\u2010year\u2010old Japanese girl diagnosed with <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22.3\u00a0m\/s in the tibial nerve to 48.2\u00a0m\/s in the median nerve. Sensory nerve conduction velocity ranged from 30.3\u00a0m\/s in the sural nerve to 52.8\u00a0m\/s in the median nerve. Sequence analysis of candidate genes identified two novel heterozygous mutations, c.229C&gt;T and c.2775G&gt;A, in <jats:italic><jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>3<jats:styled-content style=\"fixed-case\">TC<\/jats:styled-content>2<\/jats:italic>. The patient was diagnosed as having <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>4C with novel mutations, making this the first documented Japanese pediatric case.<\/jats:p>","DOI":"10.1111\/ped.13152","type":"journal-article","created":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T05:36:17Z","timestamp":1479879377000},"page":"1252-1254","source":"Crossref","is-referenced-by-count":3,"title":["Novel mutations in <i><scp>SH<\/scp>3<scp>TC<\/scp>2<\/i> in a young Japanese girl with Charcot\u2010Marie\u2010Tooth disease type 4C"],"prefix":"10.1111","volume":"58","author":[{"given":"Kazushi","family":"Ichikawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Odawara Municipal Hospital Odawara Japan"},{"name":"Division of Neurology Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keita","family":"Numasawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Odawara Municipal Hospital Odawara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saoko","family":"Takeshita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Odawara Municipal Hospital Odawara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Hashiguchi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Geriatrics Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Takashima","sequence":"additional","affiliation":[{"name":"Department of Neurology and Geriatrics Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.62.4.310"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.31"},{"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","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230225.19797.93"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp427"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.006"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/379525"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq168"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034132"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23540"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.13152","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.13152","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.13152","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T12:54:39Z","timestamp":1694696079000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.13152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1111\/ped.13152"],"URL":"https:\/\/doi.org\/10.1111\/ped.13152","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11]]}}}