{"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":1789728481020,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2007,5,29]],"date-time":"2007-05-29T00:00:00Z","timestamp":1180396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2007,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mohr\u2010Tranebjaerg syndrome (MTS) is an X\u2010linked disorder characterized by childhood\u2010onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness\/dystonia peptide (<jats:italic>DDP1<\/jats:italic>) gene. We describe a sporadic 42\u2010year\u2010old man with MTS presenting with postlingual deafness, adult\u2010onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5\u2032 splice donor site of exon 1) in the <jats:italic>DDP1<\/jats:italic> gene. This case, and a review of previously reported cases, highlights a variety of potential diagnostic pitfalls in this condition. \u00a9 2007 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21351","type":"journal-article","created":{"date-parts":[[2007,5,29]],"date-time":"2007-05-29T22:02:57Z","timestamp":1180476177000},"page":"1328-1331","source":"Crossref","is-referenced-by-count":21,"title":["Blepharospasm and limb dystonia caused by Mohr\u2010Tranebjaerg syndrome with a novel splice\u2010site mutation in the deafness\/dystonia peptide gene"],"prefix":"10.1002","volume":"22","author":[{"given":"Hee T.","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Edwards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jess","family":"Tyson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niall P.","family":"Quinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bitner\u2010Glindzicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,5,29]]},"reference":[{"key":"e_1_2_4_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_4_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.4.257"},{"key":"e_1_2_4_4_2","doi-asserted-by":"crossref","unstructured":"JinH MayM TranebjaergL et al.A novel X\u2010linked gene DDP shows mutations in families with deafness (DFN\u20101) dystonia mental retardation and blindness.1996;14:177\u2013180.","DOI":"10.1038\/ng1096-177"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200483"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1076\/opge.22.4.207.2220"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1160"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.6.1004"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg174"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000115174.96423.A8"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.2.306"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31079"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2141"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M201154200"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200107000-00017"},{"key":"e_1_2_4_16_2","first-page":"101","article-title":"Dystonia genotypes, phenotypes and classification","volume":"94","author":"Bressman SB","year":"2004","journal-title":"Adv Neurol"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21351","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21351","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:24:08Z","timestamp":1760963048000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21351"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5,29]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,7,15]]}},"alternative-id":["10.1002\/mds.21351"],"URL":"https:\/\/doi.org\/10.1002\/mds.21351","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5,29]]}}}