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A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype

โœ Scribed by Kristina Tedroff; Arndt Rolfs; Andreas Norling


Book ID
114817194
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
105 KB
Volume
101
Category
Article
ISSN
0803-5253

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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