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A novel mutation of the ε-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome

✍ Scribed by Xue-Ping Chen; Yang-Wei Zhang; Shu-Shan Zhang; Qin Chen; Jean-Marc Burgunder; Shu-Hui Wu; Yuan Yang; Zu-Ming Luo; Hui-Fang Shang

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
418 KB
Volume
23
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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 ε‐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 nonsense mutation might interference with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family. © 2008 Movement Disorder Society

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