Extra Alleles in FMR1 Triple-Primed PCR
β Scribed by Wakeling, Erin N.; Nahhas, Fatimah A.; Feldman, Gerald L.
- Book ID
- 127208742
- Publisher
- American Society for Investigative Pathology
- Year
- 2014
- Tongue
- English
- Weight
- 701 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1525-1578
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## Abstract Fragile Xβassociated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, was described recently among male carriers of expanded alleles (55β200 CGG repeats; premutation range) of the fragile X mental retardation 1 (__FMR1__) gene. Major features of the syndrome include intenti
## Abstract Carriers of fragile X mental retardation 1 repeat expansions in the premutation range (55β200 CGG repeats), especially males, often develop tremor, ataxia, and parkinsonism. These neurological signs are believed to be a result of elevated levels of expanded CGGβrepeat fragile X mental r