1.
Ann Neurol
; 52(5): 675-9, 2002 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12402271
RESUMO
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.