Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

Ann Neurol. 2002 Nov;52(5):675-9. doi: 10.1002/ana.10358.


Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence / genetics
  • Carrier Proteins / genetics
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Dystonia / genetics*
  • Humans
  • Membrane Glycoproteins / genetics*
  • Molecular Chaperones*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Receptors, Dopamine D2 / genetics
  • Sarcoglycans


  • Carrier Proteins
  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Molecular Chaperones
  • Receptors, Dopamine D2
  • Sarcoglycans
  • TOR1A protein, human