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1)  progressive spinal muscular atrophy
进行性脊肌萎缩症
1.
Clinical analysis of 129 cases of progressive spinal muscular atrophy;
进行性脊肌萎缩症129例临床分析
2)  progressive spinal muscular atrophy
进行性脊髓性肌萎缩
3)  familial progressive spinal muscular atrophy
家族性进行性脊肌萎缩
4)  Spinal muscular atrophy
脊髓性肌萎缩症
1.
Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy;
脊髓性肌萎缩症SMN1基因定量研究及基因携带者的筛查(英文)
2.
Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography;
应用变性高效液相色谱技术快速诊断儿童型脊髓性肌萎缩症(英文)
3.
Prenatal diagnosis of spinal muscular atrophy based on umbilical cord blood;
胎儿脐带血产前诊断脊髓性肌萎缩症
5)  spinal muscular atrophy
脊肌萎缩症
1.
Clinical features and inheritance analysis of 23 cases of spinal muscular atrophy;
儿童脊肌萎缩症23例临床特点及遗传学分析
2.
Prenatal diagnosis of spinal muscular atrophy based on amniotic fluid cells culturing;
羊水细胞培养进行脊肌萎缩症的产前诊断
3.
Preliminary study on survival motor neuron gene deletion of exon 7 in adult onset patients with spinal muscular atrophy;
成年起病脊肌萎缩症SMN基因外显子7缺失的初探
6)  childhood-onset spinal muscular atrophy
儿童型脊髓性肌萎缩症
1.
Prenatal diagnosis in seven families with childhood-onset spinal muscular atrophy;
儿童型脊髓性肌萎缩症家系7例产前诊断
补充资料:婴儿型脊髓进行性肌萎缩


婴儿型脊髓进行性肌萎缩
progressive musculal atrophy

  一种遗传性疾病。病变为脊髓前角细胞及延髓运动核的退行性病变。临床表现为严重的肌张力减低及自主运动的丧失。生存约1年,无特殊疗法。
  
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