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/...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.展开更多
文摘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.
