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Molecular genetic studies indicated a de novo dominant missense point mutation of exon 3 of the peripheral myelin protein 22 gene at nucleotide 264 causing replacement of serine with leucine.<\/jats:p>","DOI":"10.1136\/jmg.33.12.1048","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"1048-1049","source":"Crossref","is-referenced-by-count":39,"title":["Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene."],"prefix":"10.1136","volume":"33","author":[{"given":"V V","family":"Ionasescu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Searby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S A","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,12,1]]},"reference":[{"key":"ref_1","first-page":"1094","author":"Dyck, P.J.; Chance, P.; Lebo, R.; Camey, A.J.","year":"1993","unstructured":"Dyck PJ, Chance P, Lebo R, Camey AJ. 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