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MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders

โœ Scribed by Stavroula Psoni; Christalena Sofocleous; Joanne Traeger-Synodinos; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis; Helen Fryssira-Kanioura


Book ID
113499094
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
137 KB
Volume
34
Category
Article
ISSN
0387-7604

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## Abstract Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and r