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 population and has been reported to be related to the frequency of large normal alleles...
-Sheng Shi†1, 2, Jian-Jun Wu†1, Ning Wang2, Gui-Xian Zhao1, Sheng-Tong Weng2, Shen-Xing Murong2, Chuan-Zhen Lu1 and Zhi-Ying Wu1, 2Email author †Contributed equally BMC Medical Genetics201011:47 ... -Sheng Shi, Jian-Jun Wu contributed equally to this work. Declarations Acknowledgements This work was supported by grant from Huashan Hospital for special professorship of Fudan University, Shanghai
