Article
A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
Movement disorders : official journal of the Movement Disorder Society - 30 Jul 2008
Chen Xue-Ping, Zhang Yang-Wei, Zhang Shu-Shan, Chen Qin, Burgunder Jean-Marc, Wu Shu-Hui, Yang Yuan, Luo Zu-Ming, Shang Hui-Fang
Abstract excerpt
In a Chinese myoclonus-dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the epsilon-sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real-time PCR, suggesting that the...
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