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Article

CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3

26 Sept 2020

Abstract excerpt

OBJECTIVE: In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG) repeat in ATXN3 is the causal mutation, and its length is the main factor in determining the age at onset (AO) of clinical symptoms. However, the contribution of the expanded CAG repeat length to the rate of disease progression after onset has remained a matter of debate, even though an...

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PMID: 32978817
DOI: 10.1002/ana.25919

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