## 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 wi
ε-sarcoglycan mutations found in combination with other dystonia gene mutations
✍ Scribed by Christine Klein; Liu Liu; Dana Doheny; Norman Kock; Birgitt Müller; Patricia De Carvalho Aguiar; Joanne Leung; Deborah De Leon; Susan B. Bressman; Jeremy Silverman; Christopher Smith; Fabio Danisi; Chris Morrison; Ruth H. Walker; Miodrag Velickovic; Eberhard Schwinger; Patricia L. Kramer; Xandra O. Breakefield; Mitchell F. Brin; Laurie J. Ozelius
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 649 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0364-5134
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## Abstract Myoclonus‐dystonia (M‐D) due to __SGCE__ mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified muta
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