A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome

J Neurol. 2011 Jun;258(6):1186-8. doi: 10.1007/s00415-011-5911-6. Epub 2011 Jan 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Dystonic Disorders / genetics*
  • Family Health
  • Female
  • Germany
  • Humans
  • Mutation / genetics*
  • Sarcoglycans / genetics*

Substances

  • SGCE protein, human
  • Sarcoglycans

Supplementary concepts

  • Myoclonic dystonia