Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
复制标题
DOI：
10.1038/ng.995
复制
发表时间：
2011-12-01
期刊：
影响因子：
30.8
通讯作者：
Johnson, Colin A.
中科院分区：
文献类型：
--
作者：
Logan, Clare V.;Lucke, Barbara;Johnson, Colin A.
婴儿肌病伴痉挛性麻痹在遗传上是异质的，临床症状不能帮助鉴别它们。我们采用分阶段单倍型分析和随后的靶向外显子组测序，以确定MEGF10突变在以前未确定的类型的婴儿肌病与四肢无力，反射消失，呼吸窘迫和吞咽困难。MEGF10在活化的卫星细胞中高度表达，并调节它们的增殖以及它们分化和融合成多核肌纤维，多核肌纤维在患有早发性肌病、反射消失、呼吸窘迫和吞咽困难的个体的肌肉中大大减少。
Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia.