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家族性肌萎缩侧索硬化症(FALS)属运动神经元疾病,据报道[1]约有20%~50%的常染色体显性遗传FALS是由于SOD1基因突变所致,并可相应出现红细胞内SOD1活性下降,降低幅度约20%~60%[2]。根据这一特性,我们对所收集的5个常显FALS家系中的27位成员进行了红细胞内S
Familial amyotrophic lateral sclerosis (FALS) is a motor neuron disease. It has been reported that about 20% -50% autosomal dominant inherited FALS is due to mutations in the SOD1 gene and may result in intracytoplasmic erythrocytes SOD1 activity decreased, a decrease of about 20% to 60% [2]. According to this characteristic, we collected 27 normal members of FALS family of 27 members of the intra-erythrocytic S