Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
Identifieur interne : 001707 ( Istex/Curation ); précédent : 001706; suivant : 001708Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
Auteurs : Katja Ritz [Pays-Bas] ; Justus L. Groen [Pays-Bas] ; Jose J. M. Kruisdijk [Pays-Bas] ; Frank Baas [Pays-Bas] ; Johannes H. T. M. Koelman [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-07-15.
English descriptors
- KwdEn :
- DYT1, DYT11, DYT16, writer's cramp.
Abstract
Task‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22632
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-07-15">2009-07-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1390">1390</biblScope><biblScope unit="page" to="1392">1392</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4FB5099F9D4B632F59D9FEE8677FFE29D2542D09</idno><idno type="DOI">10.1002/mds.22632</idno><idno type="ArticleID">MDS22632</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DYT1</term><term>DYT11</term><term>DYT16</term><term>writer's cramp</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Task‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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