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脊髓性肌萎缩症 (spinalmuscularatrophy ,SMA)是一组由脊髓前角细胞变性所致的肌无力和肌萎缩的遗传性神经肌肉疾病。本研究通过对我院 1997～ 2 0 0 1年间临床及病理确诊的儿童型SMA进行SMN T(端粒侧运动神经元生存基因 )及SMN C(着丝粒侧运动神经元生存基因 )拷贝数的定量测
Spinal muscular atrophy (SMA) is a group of hereditary neuromuscular diseases characterized by myasthenia and amyotrophy caused by degeneration of the spinal cord anterior horn cells. In our study, the copy number of SMN T (telomere-side motor neuron survival gene) and SMN C (centromeric motor neuron survival gene) in children with clinically and pathologically diagnosed childhood SMA from 1997 to 2001 were analyzed. Quantitative measurement