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De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

✍ Scribed by Dobričić, Valerija; Kresojević, Nikola; Westenberger, Ana; Svetel, Marina; Tomić, Aleksandra; Ralić, Vesna; Petrović, Igor; Lukić, Milica Ječmenica; Lohmann, Katja; Novaković, Ivana; Klein, Christine; Kostić, Vladimir S.


Book ID
121816301
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
241 KB
Volume
29
Category
Article
ISSN
0885-3185

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Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. Myoclonic movements of the arms and axial muscles are associated with dystonic movements of the neck and arms in more than 50% of the patients.