Article
Expanded clinical phenotype of women with the FMR1 premutation.
American journal of medical genetics. Part A - 15 Apr 2008
Coffey Sarah M, Cook Kylee, Tartaglia Nicole, Tassone Flora, Nguyen Danh V, Pan Ruiqin, Bronsky Hannah E, Yuhas Jennifer, Borodyanskaya Mariya, Grigsby Jim, Doerflinger Melanie, Hagerman Paul J, Hagerman Randi J
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; range, 20-75 years)...
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