The epsilon-sarcoglycan gene in myoclonic syndromes

Neurology. 2005 Feb 22;64(4):737-9. doi: 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 (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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • RNA Splice Sites
  • Sarcoglycans