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Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): Clinical Phenotype, Diagnosis and Treatment
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 gene. Onset is typically in the early seventh decade and men are principally affected. The major signs are cere...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2787702/ https://ncbi.nlm.nih.gov/pubmed/19574929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.231/JIM.0b013e3181af59c4 |
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