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Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

✍ Scribed by Rodriguez-Revenga, Laia; Madrigal, Irene; Pagonabarraga, Javier; Xunclà, Mar; Badenas, Celia; Kulisevsky, Jaime; Gomez, Beatriz; Milà, Montserrat

Book ID: 109849145
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 85 KB
Volume: 17
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2009.51

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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