{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:48:01Z","timestamp":1789728481042,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2001,8,10]],"date-time":"2001-08-10T00:00:00Z","timestamp":997401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2001,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sex\u2010linked male deafness and dystonia (Mohr\u2010Tranebjaerg syndrome) arises from mutation of the deafness\/dystonia peptide <jats:italic>(DDP)<\/jats:italic> gene. We describe a novel guanine deletion at nucleotide 108 of the <jats:italic>DDP<\/jats:italic> gene in a family with Mohr\u2010Tranebjaerg syndrome, which terminates this 97\u2013amino acid protein at codon 25. Unlike previously reported kindreds, carrier females in this family also manifest dystonias, including torticollis and writer's cramp. A family history of male deafness should alert clinicians to the possibility of <jats:italic>DDP<\/jats:italic> mutation in women with focal dystonias.<\/jats:p>","DOI":"10.1002\/ana.1160","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T19:53:55Z","timestamp":1030305235000},"page":"537-540","source":"Crossref","is-referenced-by-count":47,"title":["A novel deafness\/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr\u2010Tranebjaerg syndrome"],"prefix":"10.1002","volume":"50","author":[{"given":"Russell H.","family":"Swerdlow","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Frederick","family":"Wooten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,8,10]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"54","article-title":"Sex\u2010linked deafness of a possibly new type","volume":"10","author":"Mohr J","year":"1960","journal-title":"Acta Genet Stat Med"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.4.257"},{"key":"e_1_2_6_4_2","first-page":"235","article-title":"Familial syndrome with dystonia, neural deafness, and possible intellectual impairment: clinical course and pathological findings","volume":"14","author":"Scribanu N","year":"1976","journal-title":"Adv Neurol"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-177"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200483"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280234"},{"key":"e_1_2_6_8_2","first-page":"A349","article-title":"Jensen syndrome is allelic to Mohr\u2010Tranebjaerg syndrome and both are caused by stop mutations in the DDP gene","volume":"51","author":"Tranebjaerg L","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<237::AID-AJMG2>3.0.CO;2-8"},{"key":"e_1_2_6_10_2","series-title":"Genetics in otorhinolaryngology. Advances in otorhinolaryngology","first-page":"176","author":"Tranebjaerg L","year":"2000"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/302286"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2141"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5966"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.13.6206"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.1817"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.50.1.111"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.1160","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.1160","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T22:37:44Z","timestamp":1697495864000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.1160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,8,10]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2001,10]]}},"alternative-id":["10.1002\/ana.1160"],"URL":"https:\/\/doi.org\/10.1002\/ana.1160","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,8,10]]}}}