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Article

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.

Human genetics - 1 Nov 2024

Sidky Ahmed M, Melo Ana Rosa Vieira, Kay Teresa T, Raposo Mafalda, Lima Manuela, Monckton Darren G

Abstract excerpt

Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is caused by the expansion of a genetically unstable polyglutamine-encoding CAG repeat in ATXN3. Longer alleles are generally associated with earlier onset and frequent intergenerational expansions mediate the anticipation observed in this disorder. Somatic expansion of the repeat has also been implicated in disease onset and slowing the rate of...

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PMID: 39375222
DOI: 10.1007/s00439-024-02698-7
PMCID: PMC11522074

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Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.PMID 39375222Read ↗

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