Han F, Lang A E, Racacho L, Bulman D E, Grimes D A
Ottawa Health Research Institute, Centre for Neuromuscular Disease, University of Ottawa, Ontario, Canada.
Neurology. 2003 Jul 22;61(2):244-6. doi: 10.1212/01.wnl.0000073142.40185.c1.
Myoclonus-dystonia syndrome (MDS) is a disorder for which the major cause appears to be mutations in the epsilon-sarcoglycan gene (SGCE). The authors have now performed mutation screening in 22 affected individuals from seven families with findings of typical MDS. A novel 5-bp deletion in exon 7 of the gene in one family and the previously reported R102X nonsense mutation in exon 3 in two other families were identified. Mutations in the SGCE gene were found in the minority of families screened in this series.
肌阵挛性肌张力障碍综合征（MDS）是一种主要病因似乎是ε-肌聚糖基因（SGCE）突变的疾病。作者现已对来自7个典型MDS家系的22名患者进行了突变筛查。在一个家系中发现该基因外显子7有一个新的5碱基缺失，在另外两个家系中发现了先前报道的外显子3中的R102X无义突变。在本系列筛查的少数家系中发现了SGCE基因的突变。
