Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D
Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy.
Nat Genet. 1994 Dec;8(4):323-7. doi: 10.1038/ng1294-323.
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight transcripts expressed at high levels in skeletal muscle, heart and/or brain as the best candidates for the disease. We now report, in all five patients studied, unique mutations in one of the genes, STA: these mutations result in the loss of all or part of the protein. The EDMD gene encodes a novel serine-rich protein termed emerin, which contains a 20 amino acid hydrophobic domain at the C terminus, similar to that described for many membrane proteins of the secretory pathway involved in vesicular transport.
埃默里-德赖富斯肌营养不良症（EDMD）是一种X连锁隐性疾病，其特征为进行性挛缩、骨骼肌萎缩和心肌病。心脏传导阻滞是常见的死亡原因。该疾病基因已被定位到Xq28远端。在该区域的众多基因中，我们选择了在骨骼肌、心脏和/或大脑中高表达的八个转录本作为该疾病的最佳候选基因。我们现在报告，在所研究的所有五名患者中，其中一个基因STA存在独特的突变：这些突变导致全部或部分蛋白质缺失。EDMD基因编码一种名为emerin的新型富含丝氨酸的蛋白质，其C末端含有一个20个氨基酸的疏水域，类似于许多参与囊泡运输的分泌途径膜蛋白所描述的结构域。
