Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier

Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficien...

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Bibliographic Details
Published in:Colombia Médica
Main Authors: Wilmar Saldarriaga-Gil, Tatiana Rodriguez-Guerrero, Andres Fandiño-Losada, Julian Ramirez-Cheyne
Format: Artigo
Language:Inglês
Published: Universidad del Valle 2017
Subjects:
Medicina
FXPOI
FXTAS
Ataxia
genetics
diagnosis
Online Access:https://www.redalyc.org/articulo.oa?id=28353727007
https://www.redalyc.org/journal/283/28353727007/
https://www.redalyc.org/journal/283/28353727007/html/
https://www.redalyc.org/journal/283/28353727007/28353727007.epub
https://www.redalyc.org/journal/283/28353727007/movil
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