1.271 MUTATION SPECTRUM OF GENE ENCODING EPSILON-SARCOGLYCAN IN MYOCLONUS-DYSTONIA SYNDROME
✍ Scribed by M. Rudzińska; M. Szubiga; M. Bik-Multanowski; P. Janik; A. Potulska-Chromik; B. Brodacki; D. Koziorowski; A. Szczudlik
- Book ID
- 117754699
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 71 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1353-8020
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Myoclonus-dystonia syndrome (MDS) is a non-degenerative neurological disorder that has been described to be inherited in an autosomal dominant mode with incomplete penetrance. MDS is caused by loss of function mutations in the epsilon-sarcoglycan gene. Reinvestigation of MDS pedigrees provided evide
## 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