遗传相关性肌张力低下的诊断进展

詹实娜,何玺玉

中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (2) : 151-153.

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中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (2) : 151-153.
综述与讲座

遗传相关性肌张力低下的诊断进展

  • 詹实娜,何玺玉
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摘要

肌张力低下是婴幼儿时期较为常见的异常临床表现,其由遗传代谢性疾病所致的发生率高。如染色体疾病,如唐氏综合征;微结构缺失染色体疾病如Prader-Willi综合征;单基因疾病,如脊肌萎缩症;代谢性疾病,如苯丙酮尿症;线粒体疾病,如Leigh综合征等。本文就导致婴幼儿肌张力低下的遗传代谢性相关疾病的临床表现、诊断进展等情况做一综述介绍,为临床诊断提供帮助。

关键词

肌张力低下 / 染色体病 / 线粒体疾病

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导出引用
詹实娜,何玺玉. 遗传相关性肌张力低下的诊断进展[J]. 中国儿童保健杂志. 2012, 20(2): 151-153
中图分类号: R729   

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全军面上项目(06BM074)

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