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Instability of a Premutation-Sized CGG Repeat in FMR1 YAC Transgenic Mice

✍ 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 X‐associated 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

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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