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Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

BACKGROUND: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be comple...

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Detalles Bibliográficos
Autores principales: Bettencourt, Conceição, Santos, Cristina, Coutinho, Paula, Rizzu, Patrizia, Vasconcelos, João, Kay, Teresa, Cymbron, Teresa, Raposo, Mafalda, Heutink, Peter, Lima, Manuela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217914/
https://www.ncbi.nlm.nih.gov/pubmed/22023810
http://dx.doi.org/10.1186/1471-2377-11-131