Article
The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction.
European neurology - 1 Jan 2004
Gu Weihong, Ma Huizi, Wang Kang, Jin Miao, Zhou Yongxing, Liu Xingzhou, Wang Guoxiang, Shen Yan
Abstract excerpt
Machado-Joseph disease (MJD) is the most common type of autosomal dominant spinocerebellar ataxia caused by an expanded CAG repeat in the MJD1 gene. Intermediate CAG alleles have been previously described, and they tend to be associated with unusual manifestations of the nervous system. Here we describe a Chinese kindred with hereditary spinocerebellar ataxia, in which the proband presented with autonomic...
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