Article
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
Clinical genetics - 1 Mar 2013
Winarni T I, Mundhofir F E P, Ediati A, Belladona M, Nillesen W M, Yntema H G, Hamel B C J, Faradz S M H, Hagerman R J
Abstract excerpt
Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80. FMR1 molecular analysis was done using PCR and confirmed by Southern Blot. Three premutation males were diagnosed FXTAS using quantification based on the standard neurological...
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