Article
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
Movement disorders : official journal of the Movement Disorder Society - 30 Jul 2008
Temudo Teresa, Ramos Elisabete, Dias Karin, Barbot Clara, Vieira Jose P, Moreira Ana, Calado Eulalia, Carrilho Ines, Oliveira Guiomar, Levy Antonio, Fonseca Maria, Cabral Alexandra, Cabral Pedro, Monteiro Joao P, Borges Luis, Gomes Roseli, Santos Manuela, Sequeiros Jorge, Maciel Patricia
Abstract excerpt
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 rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their...
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