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Article

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.

Archives of neurology - 1 Jun 2012

Martins Sandra, Soong Bing-Wen, Wong Virginia C N, Giunti Paola, Stevanin Giovanni, Ranum Laura P W, Sasaki Hidenao, Riess Olaf, Tsuji Shoji, Coutinho Paula, Amorim António, Sequeiros Jorge, Nicholson Garth A

Abstract excerpt

OBJECTIVE: To determine whether the presence of Machado-Joseph disease (MJD, also spinocerebellar ataxia type 3 [SCA3]) among Australian aborigines was caused by a new mutational event or by the introduction of expanded alleles from other populations. DESIGN: We sequenced a region of 4 kilobases (kb), encompassing the CAG repeat within the ATXN3 gene, in 2 affected Australian aboriginal families and compared them...

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Identifiers

PMID: 22351852
DOI: 10.1001/archneurol.2011.2504

Genes

ATXN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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