脊髓性肌萎缩症诊治进展
被引量:2
Spinal muscular atrophy: a literature review of diagnosis and therapeutic strategies
摘要
脊髓性肌萎缩症(spinalmuscularatrophy,SMA)属常染色体隐性遗传神经退行性病变,是由SMNl基因的纯和缺失或突变所致.SMNI基因存在于染色体5q11-5q13区。SMA疾病仅次于囊泡纤维症居于第二位的遗传性致死性疾病,婴儿发病率为1:6000到1:10000之间,每40-60人中有1位杂合子携带者。本文针对目前SMA的治疗作一综述,以为SMA的研究提供帮助。
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2012年第3期320-322,共3页
Chinese Journal of Neuromedicine
关键词
神经肌肉萎缩
SMN基因
治疗药物
突变
Neuromuscular disorders
SMN gene
Therapeutically drugs
Mutations
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