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  • Title: [Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease].
    Author: Jia D, Jiang H, Tang B.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Dec; 25(6):660-2. PubMed ID: 19065526.
    Abstract:
    To date, nearly 28 distinct genetic loci of autosomal dominant cerebellar ataxias have been identified, among them 18 disease-causing genes have been cloned. Of these, Machado-Joseph disease (MJD), also named as spinocerebellar ataxia type 3 (SCA3), is perhaps the most common subtype among different races and origins in the world. It is a neurodegenerative disease caused by the expansion of a CAG repeat in the coding region of the MJD1 gene, with obvious clinical and genetic heterogeneity. In this review, authors covered the recent advances in molecular genetic of SCA3/MJD.
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