Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

Mosaicism for FMR1 premutation (PM: 55–199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less severe fragile X syndrome (FXS) phenotype and fragile X associated tremor/ataxia syndrome (FXTAS)—a late onset neurodegenerative disor...

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Bibliographic Details
Main Authors: Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Desirée du Sart, Robert Heard, David Eugeny Godler
Format: Article
Language:English
Published: MDPI AG 2016-09-01
Series:Genes
Subjects:
fragile X syndrome
FMR1
FXTAS
ataxia
tremor
methylation
mosaicism
AmplideX
Southern blot
RNA toxicity
Online Access:http://www.mdpi.com/2073-4425/7/9/68

Internet

http://www.mdpi.com/2073-4425/7/9/68

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