## 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
Myoclonus–dystonia syndrome: ε-sarcoglycan mutations and phenotype
✍ Scribed by Friedrich Asmus; Alexander Zimprich; Sophie Tezenas Du Montcel; Christian Kabus; Günther Deuschl; Andreas Kupsch; Ulf Ziemann; Mirna Castro; Andrea A. Kühn; Tim M. Strom; Marie Vidailhet; Kailash P. Bhatia; Alexandra Dürr; Nicholas W. Wood; Alexis Brice; Thomas Gasser
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 92 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0364-5134
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## 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
## Abstract We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5.
Missense mutations in the SGCE gene encoding ε-sarcoglycan account for approximately 15% of SGCE-positive cases of myoclonus-dystonia syndrome (MDS) in humans. In this study, we show that while the majority of MDS-associated missense mutants modeled with a murine ε-sarcoglycan cDNA are substrates fo