Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis.
Identifieur interne : 002624 ( Ncbi/Curation ); précédent : 002623; suivant : 002625Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis.
Auteurs : Roy Alcalay ; Stacy Wu ; Shailendra Patel ; Steven FruchtSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adult, Cathartics (therapeutic use), Cerebellum (pathology), Chenodeoxycholic Acid (therapeutic use), Cholestanetriol 26-Monooxygenase (genetics), Dystonia (drug therapy), Dystonia (etiology), Dystonia (genetics), Dystonia (pathology), Female, Humans, Magnetic Resonance Imaging (methods), Mutation, Xanthomatosis, Cerebrotendinous (complications), Xanthomatosis, Cerebrotendinous (drug therapy), Xanthomatosis, Cerebrotendinous (genetics).
- MESH :
- chemical , genetics : Cholestanetriol 26-Monooxygenase.
- chemical , therapeutic use : Cathartics, Chenodeoxycholic Acid.
- complications : Xanthomatosis, Cerebrotendinous.
- drug therapy : Dystonia, Xanthomatosis, Cerebrotendinous.
- etiology : Dystonia.
- genetics : Dystonia, Xanthomatosis, Cerebrotendinous.
- methods : Magnetic Resonance Imaging.
- pathology : Cerebellum, Dystonia.
- Adult, Female, Humans, Mutation.
DOI: 10.1002/mds.22585
PubMed: 19373932
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