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Is the high frequency of machado-joseph disease in China due to new mutational ...

Li, T; Martins, S; Peng, Y; Wang, P; Hou, X; Chen, Z; Wang, C; Tang, Z; Qiu, R; Chen, C; Hu, Z; Xia, K; Tang, B; Sequeiros, J; Jiang, H

Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1-5/100,000. To this date, two major ancestral lineages have been found throughout the world. In China, the relative frequency of MJD among the SCAs reaches as high as 63%, however, little is known about its mutational origin in this country. We analyze...


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