Instability of a Premutation-Sized CGG Repeat in FMR1 YAC Transgenic Mice
β Scribed by Andrea M Peier; David L Nelson
- Book ID
- 115615697
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 309 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0888-7543
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## Abstract Fragile Xβassociated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the __FMR1__ gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)~1
The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regression of a CGG repeat in the premutation range is not uncommon, regression from a full premu