{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:27:26Z","timestamp":1791098846076,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T00:00:00Z","timestamp":1340755200000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:p>Mutations of the early growth response 2 (<jats:italic>EGR2<\/jats:italic>) gene have been reported in a variety of severe demyelinating neuropathies such as autosomal recessive congenital hypomyelinating neuropathy, autosomal dominant child\u2010onset Dejerine\u2010Sottas neuropathy, and autosomal dominant adult\u2010onset Charcot\u2010Marie\u2010Tooth disease (CMT). Here, we report on a heterozygous mutation in <jats:italic>EGR2<\/jats:italic> (c.1160C&gt;A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult\u2010onset CMT. Of note, both the proband and her asymptomatic son exhibited neither pes cavus nor champagne\u2010bottle leg atrophy, suggesting that the heterozygous T387N mutation may result in a relatively mild phenotype of demyelinating CMT.<\/jats:p>","DOI":"10.1111\/j.1529-8027.2012.00403.x","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T07:09:49Z","timestamp":1340780989000},"page":"206-209","source":"Crossref","is-referenced-by-count":11,"title":["A novel <i>EGR2<\/i> mutation within a family with a mild demyelinating form of Charcot\u2010Marie\u2010Tooth disease"],"prefix":"10.1111","volume":"17","author":[{"given":"Kensuke","family":"Shiga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Noto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuko","family":"Mizuta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Hashiguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Takashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,6,27]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100480100107"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.08.001"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0313-1"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(03)00028-5"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-007-0094-0"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/371796a0"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.e81"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0498-382"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197407182910305"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(00)00504-9"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1529-8027.2012.00403.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1529-8027.2012.00403.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T09:16:24Z","timestamp":1698657384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1529-8027.2012.00403.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1111\/j.1529-8027.2012.00403.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1529-8027.2012.00403.x","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6]]}}}