No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA.

Parkinsonism Relat Disord. 2020 Apr;73:1-2. Epub 2020 Feb 26

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We screened the RFC1 intronic AAGGG repeat expansions in late-onset ataxia cases, MSA patients and controls. The data suggested that no biallelic repeat expansion carrier was found in our cohort and the heterozygous intronic AAGGG repeat expansions may not lead to an increased risk of late-onset ataxia or MSA.

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No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA.

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