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1.265 THE CLINICAL FEATURES OF DOPA-RESPONSIVE DYSTONIA (DRD) AND THE GCH-I GENE MUTATION IN A CHINESE FAMILY

โœ Scribed by X. Chen; Y. Xue


Book ID
117754693
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
54 KB
Volume
18
Category
Article
ISSN
1353-8020

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## Abstract In a Chinese myoclonusโ€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 ฮตโ€sarcoglycan (__SGCE__) gene, leading to a frameshift wi