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Article

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

Clinical genetics - 1 Aug 2016

Souza G N, Kersting N, Krum-Santos A C, Santos A S P, Furtado G V, Pacheco D, Gonçalves T A, Saute J A, Schuler-Faccini L, Mattos E P, Saraiva-Pereira M L, Jardim L B

Abstract excerpt

Controversies about Mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) need clarification. Additional evidence about these issues was obtained from the cohort of all SCA3/MJD individuals living in South Brazil. A survey was carried out to update information registered since 2001. Deaths were checked with the Public...

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Identifiers

PMID: 26693702
DOI: 10.1111/cge.12719

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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