论文部分内容阅读
Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully def ined. We screened 58 individuals with a range of myoclonic/dystonic syndromes fo r SGCE mutations. We found mutations (four of them novel) in six (21%) of the 2 9 patients with essential myoclonus and myoclonic dystonia, but did not find mut ations in the 29 patients with other phenotypes.
Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic / dystonic syndromes fo r SGCE mutations. We found mutations (four of them novel) in six (21%) of the 2 9 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.