Congenital myopathies
Congenital myopathies
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DOI：
10.1097/wco.0b013e3282ef6e69
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发表时间：
2007-10-01
影响因子：
4.8
通讯作者：
Laing, Nigel G.
中科院分区：
文献类型：
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作者：
Laing, Nigel G.
在过去的一年中，一些先天性肌病的基因首次被发现(P-原肌球蛋白在帽状肌病中被发现，可能骨骼肌α-肌动蛋白在斑马体肌病中被发现)，在其他基因已被发现的先天性肌病中进一步的基因被发现(在线状肌病中，硒蛋白N在先天性纤维型肌病中)和隐性的肌球蛋白贮积性肌病与已知在显性肌营养不良症中突变的骨骼肌/β-肌球蛋白的纯基因突变有关。先天性肌病的病理生物学有了进一步的澄清，包括表观遗传效应基础的确定：隐性中枢核心疾病中正常等位基因的沉默，以及无骨骼肌动蛋白的线虫肌病患者心脏(胎儿)α-肌动蛋白的持续存在。
Purpose of reviewThe aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research.Recent findingsIn the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (P-tropomyosin in cap disease and perhaps skeletal muscle a-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/beta-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. There has been further clarification of the pathobiology of the congenital myopathies, including determination of the basis of epigenetic effects: silencing of the normal allele in recessive central core disease and persistence of cardiac (fetal) a-actin in nemaline myopathy patients with no skeletal actin.SummaryThe increased understanding of the genes and pathobiology of the congenital myopathies that is developing should ultimately lead to effective treatments.