{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T02:29:23Z","timestamp":1776479363780,"version":"3.51.2"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,12,21]],"date-time":"2012-12-21T00:00:00Z","timestamp":1356048000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic germinal and somatic mosaicisms of dominant Charcot\u2010Marie\u2010Tooth disease (<jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>) mutations are rarely reported and\/or recognized. We describe a novel heterozygous p.<jats:styled-content style=\"fixed-case\">Trp39Cys<\/jats:styled-content> missense mutation in the extracellular domain of the peripheral myelin protein 22 (<jats:styled-content style=\"fixed-case\">PMP22<\/jats:styled-content>) associated with an early\u2010onset demyelinating <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content> type 1 E (<jats:styled-content style=\"fixed-case\">CMT1E<\/jats:styled-content>) in two siblings born from asymptomatic non\u2010consanguineous parents. The 29\u2010year\u2010old mother, harboring approximately 20% of the mutant <jats:italic><jats:styled-content style=\"fixed-case\">PMP22<\/jats:styled-content><\/jats:italic> allele in blood, had minor signs of distal polyneuropathy (<jats:italic>pes cavus<\/jats:italic>, decreased ankle jerk reflexes and vibration sense in legs) and slight reduction of sural nerve action potentials (<jats:styled-content style=\"fixed-case\">SNAPs<\/jats:styled-content>). Authors suggest that mutations of <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>\u2010related genes which originate in post\u2010zygotic stages may be associated with mild phenotypes of peripheral neuropathy.<\/jats:p>","DOI":"10.1111\/j.1529-8027.2012.00441.x","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T05:33:56Z","timestamp":1356154436000},"page":"414-417","source":"Crossref","is-referenced-by-count":9,"title":["Parental mosaicism of a novel <i><scp>PMP22<\/scp><\/i> mutation with a minimal neuropathic phenotype"],"prefix":"10.1111","volume":"17","author":[{"given":"Federica","family":"Taioli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bertolasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Ajena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moreno","family":"Ferrarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Cabrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Crestanello","sequence":"additional","affiliation":[{"name":"Service of Child Neuropsychiatry of Villafranca ULSS22  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gian Maria","family":"Fabrizi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,12,21]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21145"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.1.101"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21973"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000103441.52563.02"},{"key":"e_1_2_2_6_1","first-page":"333","article-title":"Mosaicism for Charcot\u2010Marie\u2010Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages","volume":"1","author":"Rautenstrauss B","year":"1998","journal-title":"Int J Mol Med"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22166"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.483"},{"key":"e_1_2_2_9_1","first-page":"846","article-title":"Peripheral myelin protein 22: facts and hypothesis","volume":"53","author":"Suter U","year":"1995","journal-title":"Neurology"},{"key":"e_1_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050708"}],"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.1529-8027.2012.00441.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1529-8027.2012.00441.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T08:44:36Z","timestamp":1700556276000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1529-8027.2012.00441.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1111\/j.1529-8027.2012.00441.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1529-8027.2012.00441.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":[[2012,12]]}}}