Description
SMA是一种常染色体隐性遗传病，由脊髓和脑干中的下运动神经元变性而引起的骨骼肌进行性萎缩，导致患者出现进行性肌无力。常规人群中有1/50的致病基因携带率，如果父母碰巧都是携带者的话就有25%的几率会生下SMA患儿。本期节目邀请到了云南省第一人民医院遗传诊断中心主任朱宝生教授和华大基因妇幼健康事业部研发技术总监孙隽博士一起了解SMA这种疾病。
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