Myoclonus in fraternal twin toddlers: A French family with a novel mutation in the SGCE gene
✍ Scribed by Susanne Thümmler; Fabienne Giuliano; Olivier Pincemaille; Pascale Saugier-Veber; Serge Perelman
- Book ID
- 113590417
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 148 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1090-3798
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Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. Myoclonic movements of the arms and axial muscles are associated with dystonic movements of the neck and arms in more than 50% of the patients.
## 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 The objective of this study was to report clinical details and results of genetic testing for mutations in the __ε‐sarcoglycan__ (__SGCE__) gene, the __Slit and Trk‐like 1__ (__SLITRK1__) gene and for linkage to the __DYT15, DYT1,__ and __DRD2__ gene loci in a family with autosomal domi