Article

Research on Mitochondrial DNA Mutations in Patients with SCA3/MJD

2017-01-18

Abstract excerpt

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 disea...

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Literature Corpus work: a63ad490-b576-5360-9def-2c0005a0db67
DOI: 10.1101/101238

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