期刊
ANNALS OF NEUROLOGY
卷 52, 期 5, 页码 675-679出版社
WILEY
DOI: 10.1002/ana.10358
关键词
-
资金
- NINDS NIH HHS [NS 26656, NS 37409, NS 28384] Funding Source: Medline
Myoclonus-dystonia is a movement disorder associated with mutations in the c-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.
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