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作者对遗传性肌萎缩侧索硬化症(家族性肌萎缩侧索硬化症,FALS)伴有最常见的钢/锌超氧化物歧化酶1(SOD1)的变异,即一个丙氨酸在密码4上替换为缬氨酸(A4V)的患者进行了调查,对其临床和病理学特点进行了描述,并与特发的ALS(SALS)进行了比较。 作者从1985年到目前的收集的395例FALS患者的遗传学、家谱系以及临床资料中,对具有SOD1变异的患者进行了染色体DNA筛选,在9个家族中选出了11例患者,对其中5例进行了尸体解剖检查,同时
The author of the genetic amyotrophic lateral sclerosis (familial amyotrophic lateral sclerosis, FALS) is associated with the most common variant of steel / zinc superoxide dismustase 1 (SOD1), an alanine at codon 4 The patients who switched to valine (A4V) were investigated and their clinical and pathological features were described and compared with the idiopathic ALS (SALS). Of the 395 FALS collected from 1985 to present in the genetics, pedigree, and clinical data of 395 patients with FALS, chromosomal DNA screening was performed in patients with SOD1 mutations, of which 11 patients were selected from 9 families 5 cases were autopsy, at the same time