Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
✍ Scribed by Teresa Temudo; Mónica Santos; Elisabete Ramos; Karin Dias; José Pedro Vieira; Ana Moreira; Eulália Calado; Inês Carrilho; Guiomar Oliveira; António Levy; Clara Barbot; Maria Fonseca; Alexandra Cabral; Pedro Cabral; José Monteiro; Luís Borges; Roseli Gomes; Graça Mira; Susana Aires Pereira; Manuela Santos; Anabela Fernandes; Jorg T. Epplen; Jorge Sequeiros; Patrícia Maciel
- Book ID
- 113498872
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 234 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0387-7604
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## 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