肌阵挛综合征中的ε-肌聚糖基因。

The epsilon-sarcoglycan gene in myoclonic syndromes.

作者信息

Valente E M, Edwards M J, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim H-T, Pennisi G, Quinn N, Dallapiccola B, Bhatia K P

机构信息

IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy.

出版信息

Neurology. 2005 Feb 22;64(4):737-9. doi: 10.1212/01.WNL.0000151979.68010.9B.

DOI:10.1212/01.WNL.0000151979.68010.9B

PMID:15728306

Abstract

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 for SGCE mutations. We found mutations (three of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.

摘要

ε-肌聚糖基因（SGCE）突变与家族性肌阵挛性肌张力障碍相关，但该表型的完整范围可能尚未完全明确。我们对58例患有一系列肌阵挛/肌张力障碍综合征的个体进行了SGCE突变筛查。我们在29例特发性肌阵挛和肌阵挛性肌张力障碍患者中的6例（21%）发现了突变（其中3种为新突变），但在其他表型的29例患者中未发现突变。