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....

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Dettagli Bibliografici
Pubblicato in:Cerebellum Ataxias
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4552099/
https://ncbi.nlm.nih.gov/pubmed/26331044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-015-0020-4
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