The epsilon-sarcoglycan gene in myoclonic syndromes.

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 (three 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.

• Authors: E M Valente, M J Edwards, P Mir, A DiGiorgio, S Salvi, M Davis, N Russo, M Bozi, H-T Kim, G Pennisi, N Quinn, B Dallapiccola, K P Bhatia
• Journal: Neurology (Neurology) Vol. 64 Issue 4 Pg. 737-9 (Feb 22 2005) ISSN: 1526-632X [Electronic] United States
• PMID: 15728306 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• RNA Splice Sites
• Sarcoglycans

Topics

• Age of Onset
• Amino Acid Substitution
• Child
• Child, Preschool
• Cohort Studies
• Dystonic Disorders (epidemiology, genetics)
• Exons (genetics)
• Female
• Follow-Up Studies
• Genes, Dominant
• Genetic Testing
• Genotype
• Humans
• Infant
• Male
• Mutation, Missense
• Myoclonus (epidemiology, genetics)
• Phenotype
• Point Mutation
• RNA Splice Sites (genetics)
• Sarcoglycans (genetics, physiology)
• Sequence Deletion