Inherited disorders of contractile proteins in skeletal and cardiac muscle.
Inherited disorders of contractile proteins in skeletal and cardiac muscle.
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骨骼肌和心肌收缩蛋白的遗传性疾病。
DOI：
10.1097/00019052-199510000-00012
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发表时间：
1995
影响因子：
4.8
通讯作者：
N. G. Laing
中科院分区：
文献类型：
--
作者：
N. G. Laing
肌肉收缩的功能单位是肌节，这是一种严格的细胞结构，由相对少量的大多数已鉴定的收缩蛋白质构成。七种肌肉蛋白的信使RNA加在一起占成熟肌肉纤维中所有信使RNA的20%。应该预料到，这些和其他高度表达的信息或蛋白质的突变将导致遗传性肌肉疾病。近年来，特别是在过去的12个月里，已经确定了与这些蛋白质中的一些相关的疾病。家族性肥厚型心肌病、中央核心病、线状体肌病和常染色体隐性肢带型肌营养不良症都被证明涉及与肌节相关的蛋白质突变。
The functional unit of muscle contraction is the sarcomere, a structure of strict cytoarchitecture constructed from a relatively small number of mostly identified contractile proteins. The messenger RNAs for seven muscle proteins combined together account for 20% of all the messenger RNA in mature muscle fibres. It should be anticipated that mutations in these and other highly expressed messages or proteins will cause inherited muscle disorders. In recent years, but especially in the past 12 months, disorders associated with some of these proteins have been identified. Familial hypertrophic cardiomyopathy, central core disease, nemaline myopathy, and autosomal recessive limb-girdle muscular dystrophy have all been shown to involve mutations in proteins associated with the sarcomere.