Relationship Between Neurologic Symptoms and Signs and <scp>FMR1</scp> Genotype in Premutation Carriers

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Authors

Flora Tassone · University of California Davis Medical Center

Freddy Chafota · QIMR Berghofer Medical Research Institute

Miguel E. Rentería · The University of Queensland

Randi J. Hagerman · University of California, Davis

Ellery Santos · University of California, Davis

Anna Atkinson · La Trobe University

Nicholas G. Martin

Abstract

This data provides evidence for a linear relationship between FMR1 CGG size and mRNA levels, as well as both syndromic and non-syndromic forms of neurological manifestations, which represent aspects of the premutation-linked neurodegenerative process that persist with advancing age.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Hereditary Neurological Disorders

Publication Details

Published in: Annals of Clinical and Translational Neurology

DOI: 10.1002/acn3.70375

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Relationship Between Neurologic Symptoms and Signs and <scp>FMR1</scp> Genotype in Premutation Carriers

Authors

Abstract

Topics & Keywords

Publication Details