换一批
换一批摘要杆状体肌病是先天性肌病的常见类型,基因突变导致细肌丝及相关组分受累是其病因.近年来,共发现13种基因突变与该病相关.文中针对近5年新发现的6种新致病基因,从基因功能、编码蛋白、突变类型、所致杆状体肌病临床特点几个方面进行综述,对杆状体肌病发病机制进行进一步的探索.
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abstractsNemaline myopathy is a common type of congenital myopathy,and various gene mutations of thin filaments and related components are the causes of the disease.In recent years,a total of 13 gene mutations have been found to be associated with the disease.We review the six new pathogenic genes discovered in the past five years,and summarize gene function,encoded protein,mutation type and clinical features of nemaline myopathy.The pathogenesis of nemaline myopathy is needed to be further explored.
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栏目名称
综述
DOI
10.3760/cma.j.issn.1006-7876.2019.02.010
发布时间
2019-03-20
基金项目
国家自然科学基金青年科学基金资助项目(81701232)National Natural Science Foundation for Young Scientists of China
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