Distal myopathy with rimmed vacuoles (DMRV) - New GNE mutations and splice variant
Distal myopathy with rimmed vacuoles (DMRV) - New GNE mutations and splice variant
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DOI：
10.1212/01.wnl.0000123115.23652.6c
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发表时间：
2004-05-11
期刊：
影响因子：
9.9
通讯作者：
Mizusawa, H
中科院分区：
文献类型：
--
作者：
Tomimitsu, H;Shimizu, J;Mizusawa, H
对UDP-N-乙酰氨基葡萄糖2-差向异构酶/N-乙酰甘露糖激酶基因(GNE)的研究表明，几乎所有伴有边缘空泡的远端肌病都是由GNE突变引起的。发现了7个新的突变，其中包括M712T，这是犹太遗传性包涵体肌病中最常见的突变。此外，还发现了骨骼肌的剪接变异特征，而Gne突变患者和非突变患者之间的表达水平差异不明显。
Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy. In addition, a splice-variant characteristic of the skeletal muscle was found, whereas the difference of the expression level between GNE-mutated and -nonmutated patients was not apparent.