The epsilon-sarcoglycan gene in myoclonic syndromes
- 22 February 2005
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 64 (4) , 737-739
- https://doi.org/10.1212/01.wnl.0000151979.68010.9b
Abstract
Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (four of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.Keywords
This publication has 8 references indexed in Scilit:
- Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literatureMovement Disorders, 2003
- The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedEuropean Journal of Human Genetics, 2003
- Phenotypic features of myoclonus-dystonia in three kindredsNeurology, 2002
- Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndromeNature Genetics, 2001
- Benign hereditary chorea?Entity or syndrome?Movement Disorders, 2000
- Essential myoclonus and myoclonus dystoniaMovement Disorders, 1996
- Myoclonic dystoniaNeurology, 1983
- HEREDITARY ESSENTIAL MYOCLONUSBrain, 1967