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近端脊髓性肌萎缩症的临床分型和基因诊断 被引量:2

Clinical Classification and Genetic Diagnosis of Proximal Spinal Muscular Atrophy
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摘要 近端脊髓性肌萎缩症是常见的常染色体隐性遗传病,患儿四肢和躯干肌肉进行性无力和萎缩,常死于呼吸衰竭。疾病的发病时间和临床病程呈广泛的异质性。基因诊断是特异性和非创伤性的诊断方法。现就近端脊髓性肌萎缩症的临床分型和基因诊断进行阐述。
作者 宋昉
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2012年第8期559-561,共3页 Journal of Applied Clinical Pediatrics
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