FMR1 CGG repeat length predicts motor dysfunction in premutation carriers

BACKGROUND: Fragile X–associated tremor/ataxia syndrome (FXTAS) is a recently described, underrecognized neurodegenerative disorder of aging fragile X mental retardation 1 (FMR1) premutation carriers, particularly men. Core motor features are action tremor, gait ataxia, and parkinsonism. Carriers ha...

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Main Authors: Leehey, M.A., Berry-Kravis, E., Goetz, C.G., Zhang, L., Hall, D.A., Li, L., Rice, C.D., Lara, R., Cogswell, J., Reynolds, A., Gane, L., Jacquemont, S., Tassone, F., Grigsby, J., Hagerman, R.J., Hagerman, P.J.
Format: Artigo
Jezik:Inglês
Izdano: 2007
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2685188/
https://ncbi.nlm.nih.gov/pubmed/18057320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000281692.98200.f5
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