Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

BACKGROUND: Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominant ataxia in the world, but its frequency prevalence in Cuba remains uncertain....

Descripción completa

Detalles Bibliográficos
Autores principales: González-Zaldívar, Yanetza, Vázquez-Mojena, Yaimeé, Laffita-Mesa, José M, Almaguer-Mederos, Luis E, Rodríguez-Labrada, Roberto, Sánchez-Cruz, Gilberto, Aguilera-Rodríguez, Raúl, Cruz-Mariño, Tania, Canales-Ochoa, Nalia, MacLeod, Patrick, Velázquez-Pérez, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552099/
https://www.ncbi.nlm.nih.gov/pubmed/26331044
http://dx.doi.org/10.1186/s40673-015-0020-4

Ejemplares similares

Ejemplares similares