Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has excessive levels of FMR1 mRNA that lead to toxicity and mitochondrial dysfunction. The clinical features usually begin in the 6...

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Detalles Bibliográficos
Autores principales: Cabal-Herrera, Ana Maria, Tassanakijpanich, Nattaporn, Salcedo-Arellano, Maria Jimena, Hagerman, Randi J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352421/
https://www.ncbi.nlm.nih.gov/pubmed/32575683
http://dx.doi.org/10.3390/ijms21124391

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352421/
https://www.ncbi.nlm.nih.gov/pubmed/32575683
http://dx.doi.org/10.3390/ijms21124391

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