Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.

T Temudo,P Oliveira,M Santos, K Dias, J Vieira, A Moreira, E Calado, I Carrilho,G Oliveira, A Levy,C Barbot,M Fonseca, A Cabral, A Dias,P Cabral,J Monteiro, L Borges, R Gomes, C Barbosa, G Mira, F Eusébio,M Santos,J Sequeiros,P Maciel

Neurology(2007)

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摘要
Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group. In patients younger than 10 years and meeting the necessary diagnostic criteria of Rett syndrome, the association of hand stereotypies without hand gaze, bruxism, and two or more of the other stereotypies seemed to be highly indicative of the presence of an MECP2 mutation.
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rett syndrome,mecp2 mutations
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