Abstract
脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传性神经肌肉病,致病基因为SMN 1基因,以对称性进行性近端为主的肌无力为主要临床特征。近年来,SMA的分子致病机制研究及诊疗技术迅速发展,早期识别、及时诊断、规范治疗是临床实践的重点内容。.
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More From: Zhonghua er ke za zhi = Chinese journal of pediatrics
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