FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of F...

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Hlavní autoři: Seixas, Ana I, Vale, José, Jorge, Paula, Marques, Isabel, Santos, Rosário, Alonso, Isabel, Fortuna, Ana M, Pinto-Basto, Jorge, Coutinho, Paula, Margolis, Russell L, Sequeiros, Jorge, Silveira, Isabel
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
Témata:
Short Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3120661/
https://ncbi.nlm.nih.gov/pubmed/21639881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1744-9081-7-19
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