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Article

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.

Mitochondrion - 1 May 2020

Alvarez-Mora Maria Isabel, Santos Cristina, Carreño-Gago Lidia, Madrigal Irene, Tejada Maria Isabel, Martinez Francisco, Izquierdo-Alvarez Silvia, Garcia-Arumi Elena, Mila Montserrat, Rodriguez-Revenga Laia

Abstract excerpt

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in at least one-third of adult carriers of FMR1 premutation. Several studies have shown that mitochondrial dysfunction may play a role in neurodegenerative disorders. In order to assess whether mitochondrial DNA variants are involved in the risk of developing FXTAS we evaluated the frequency of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32173566
DOI: 10.1016/j.mito.2020.03.004

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