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Article

High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.

BMC medical genetics - 25 Mar 2010

Gan Shi-Rui, Shi Sheng-Sheng, Wu Jian-Jun, Wang Ning, Zhao Gui-Xian, Weng Sheng-Tong, Murong Shen-Xing, Lu Chuan-Zhen, Wu Zhi-Ying

Abstract excerpt

BACKGROUND: Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world. The relative frequency of MJD among SCA has previously been estimated at about 50% in the Chinese po...

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Identifiers

PMID: 20334689
DOI: 10.1186/1471-2350-11-47
PMCID: PMC2861663

Genes

ATXN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20334689-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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