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

Christine Klein, Liu Liu, Dana Doheny, Norman Kock, Birgitt Müller, Patricia De Carvalho Aguiar, Joanne Leung, Deborah De Leon, Susan B. Bressman, Jeremy Silverman, Christopher Smith, Fabio Danisi, Chris Morrison, Ruth H. Walker, Miodrag Velickovic, Eberhard Schwinger, Patricia L. Kramer, Xandra O. Breakefield, Mitchell F. Brin, Laurie J. Ozelius

Research output: Contribution to journalArticle

81 Scopus citations

Abstract

Myoclonus-dystonia is a movement disorder associated with mutations in the ε-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.

Original languageEnglish (US)
Pages (from-to)675-679
Number of pages5
JournalAnnals of Neurology
Volume52
Issue number5
DOIs
StatePublished - Nov 1 2002

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'ε-sarcoglycan mutations found in combination with other dystonia gene mutations'. Together they form a unique fingerprint.

  • Cite this

    Klein, C., Liu, L., Doheny, D., Kock, N., Müller, B., De Carvalho Aguiar, P., Leung, J., De Leon, D., Bressman, S. B., Silverman, J., Smith, C., Danisi, F., Morrison, C., Walker, R. H., Velickovic, M., Schwinger, E., Kramer, P. L., Breakefield, X. O., Brin, M. F., & Ozelius, L. J. (2002). ε-sarcoglycan mutations found in combination with other dystonia gene mutations. Annals of Neurology, 52(5), 675-679. https://doi.org/10.1002/ana.10358