脊髓性肌萎缩
形状记忆合金*
基因检测
医学
运动神经元
萎缩
弱点
神经肌肉疾病
后备箱
神经学
疾病
SMN1型
遗传咨询
物理医学与康复
生物信息学
病理
解剖
生物
内科学
遗传学
计算机科学
精神科
生态学
算法
作者
The Expert Consensus Group For Preimplantation Genetic Testing For Spinal Muscular Atrophy,Liying Yan,Xiaohui Zhu,Jin Huang,Jie Qiao
出处
期刊:PubMed
日期:2022-02-10
卷期号:39 (2): 129-134
被引量:2
标识
DOI:10.3760/cma.j.cn511374-20210118-00048
摘要
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron degenerative disease, which is the most common fatal neuromuscular disease in pediatrics with a high carrier frequency and can lead to progressive symmetrical muscle weakness and atrophy of the trunk and limbs. Preimplantation genetic testing (PGT) can be used to prevent the birth of children with SMA effectively. To standardize PGT technologies for SMA, experts from the fields of neurology, pediatrics and reproductive genetics have discussed and drafted this consensus for guiding its clinical application.
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