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Fragile X-Associated Tremor Ataxia Syndrome in FMR1 Gray Zone Allele Carriers

PURPOSE: Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55–200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS). Neurological signs have not...

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發表在:Mov Disord
Main Authors: Hall, Deborah, Tassone, Flora, Klepitskaya, Olga, Leehey, Maureen
格式: Artigo
語言:Inglês
出版: 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4286243/
https://ncbi.nlm.nih.gov/pubmed/22161987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.24021
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