{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T04:27:04Z","timestamp":1778732824891,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,10,30]],"date-time":"2009-10-30T00:00:00Z","timestamp":1256860800000},"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":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Myelin protein zero (<jats:italic>MPZ\/P0<\/jats:italic>) constitutes a major component of compact peripheral myelin. We report a family with a missense mutation, c.700G&gt;T p.Asp234Tyr (deviant nomenclature: c.670G&gt;T, p.Asp224Tyr), within the intracellular domain of myelin protein zero, who has distal sensorimotor symptoms, cramps, restless legs syndrome, neuropathic pain, and carpal tunnel syndrome. The index patient responded to intravenous immunoglobulin and immunosuppression, so there may be a possible secondary autoimmune process, probably triggered by altered antigen presentation due to mutated MPZ protein. Muscle Nerve, 2010<\/jats:p>","DOI":"10.1002\/mus.21523","type":"journal-article","created":{"date-parts":[[2009,10,30]],"date-time":"2009-10-30T14:33:34Z","timestamp":1256913214000},"page":"550-554","source":"Crossref","is-referenced-by-count":20,"title":["Unusual Charcot\u2013Marie\u2013Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero"],"prefix":"10.1002","volume":"41","author":[{"given":"Christiane","family":"Schneider\u2010Gold","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"K\u00f6tting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg T.","family":"Epplen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Gold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanda M.","family":"Gerding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,30]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.21051"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.48.12.1269"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21050"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)81094-0"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.01.006"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/497541"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200107114"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9261"},{"key":"e_1_2_4_10_2","article-title":"Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations","author":"Miltenberger\u2010Miltenyi G","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.20793"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021619631869"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200608060"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.152.2.301"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-02-00729.2000"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh693"},{"key":"e_1_2_4_17_2","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1093\/brain\/awh017","article-title":"Coexistent hereditary and inflammatory neuropathy","volume":"127","author":"Ginsberg L","journal-title":"Brain"},{"key":"e_1_2_4_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(01)00591-3"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.07.006"},{"key":"e_1_2_4_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050410"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21523","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T13:10:28Z","timestamp":1697461828000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,30]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1002\/mus.21523"],"URL":"https:\/\/doi.org\/10.1002\/mus.21523","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,30]]}}}