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Genotype–phenotype relationship in female carriers of the premutation and full mutation of FMR-1

✍ Scribed by Petra Franke; Marion Leboyer; Michael Gänsicke; Olaf Weiffenbach; Valerie Biancalana; Pascale Cornillet-Lefebre; Marie Françoise Croquette; Ursula Froster; Sibylle G. Schwab; Fritz Poustka; Martin Hautzinger; Wolfgang Maier


Book ID
117334634
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
127 KB
Volume
80
Category
Article
ISSN
0165-1781

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## Abstract Premutation alleles of the fragile X mental retardation 1 (__FMR1__) gene give rise to a late‐onset movement disorder, fragile X‐associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. T