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Article

Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3.

Journal of clinical laboratory analysis - 1 Jan 2003

Tsai Hui-Fang, Liu Chin-San, Chen Gin-Den, Lin Mei-Ling, Li Chuan, Chen Yi-Yun, Wang Bao-Tyan, Hsieh Mingli

Abstract excerpt

Machado-Joseph disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a translated CAG repeat expansion. Here, we present the first prenatal diagnosis of MJD in Taiwan in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. After evaluating the couples' motivation and...

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Identifiers

PMID: 12938149
DOI: 10.1002/jcla.10092
PMCID: PMC6808029

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