Abstract:Spinocerebellar ataxia type 3(SCA3) is a degenerative neurological disorders caused by trinucleotide repeat expansion within the ataxin-3 gene.It is characterized by multi-system involvement and diverse clinical phenotypes, which cannot be fully explained the length of the CAG repeats.One possible explanation for the phenotypic heterogeneity could be the presence of mitochondrial DNA mutations that modify disease severity. To explore the role of Mitochondrial DNA(mtDNA) variations in SCA3 pathogenesis, we anal… Show more
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