Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations

Neurology. 2004 Apr 13;62(7):1229-31. doi: 10.1212/01.wnl.0000118286.75059.35.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Dystonic Disorders / complications
  • Dystonic Disorders / genetics*
  • Female
  • Genes, Dominant
  • Genetic Carrier Screening
  • Genomic Imprinting
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Mutation*
  • Myoclonus / complications
  • Myoclonus / genetics*
  • Pedigree
  • Penetrance
  • Sarcoglycans

Substances

  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans