## 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
Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation
✍ Scribed by Lucie Maréchal; Grégory Raux; Cécile Dumanchin; Guillaume Lefebvre; Emmanuelle Deslandre; Carole Girard; Dominique Campion; Dominique Parain; Thierry Frebourg; Didier Hannequin
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 55 KB
- Volume
- 119B
- Category
- Article
- ISSN
- 1552-4841
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## 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
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