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Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

✍ Scribed by Hagerman, Randi; Hagerman, Paul

Book ID: 120588875
Publisher: The Lancet
Year: 2013
Tongue: English
Weight: 586 KB
Volume: 12
Category: Article
ISSN: 1474-4465
DOI: 10.1016/S1474-4422(13)70125-X

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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