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- Title
ε-sarcoglycan mutations found in combination with other dystonia gene mutations.
- Authors
Klein, Christine; Liu, Liu; Doheny, Dana; Kock, Norman; Müller, Birgitt; De Carvalho Aguiar, Patricia; Leung, Joanne; De Leon, Deborah; Bressman, Susan B.; Silverman, Jeremy; Smith, Christopher; Danisi, Fabio; Morrison, Chris; Walker, Ruth H.; Velickovic, Miodrag; Schwinger, Eberhard; Kramer, Patricia L.; Breakefield, Xandra O.; Brin, Mitchell F.; Ozelius, Laurie J.
- 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.
- Publication
Annals of Neurology, 2002, Vol 52, Issue 5, p675
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.10358