## 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
✦ LIBER ✦
Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms
✍ Scribed by Akbari, Mohamad T.; Mirfakhraie, Reza; Zare-Karizi, Shohreh; Shahidi, Gholamali
- Book ID
- 125817005
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 230 KB
- Volume
- 548
- Category
- Article
- ISSN
- 0378-1119
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