Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene

Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene

The X-linked FMR1 premutation (PM) is characterized by a 55–200 CGG triplet expansion in the 5′-untranslated region (UTR). Carriers of the PM were originally thought to be asymptomatic; however, they may present general neuropsychiatric manifestations including learning disabilities, depression and...

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Bibliographic Details
Main Authors: Eleonora Napoli, Yingratana Amabel McLennan, Andrea Schneider, Flora Tassone, Randi J. Hagerman, Cecilia Giulivi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Molecular Biosciences
Subjects:
mitochondrial dysfunction
omics
cellular response to stress
oxidative phosphorylation
glycolysis
fragile X-associated primary ovarian insufficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2020.578640/full

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https://www.frontiersin.org/articles/10.3389/fmolb.2020.578640/full

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