DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
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DOI:
10.1086/421054
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发表时间:
2004-06-01
影响因子:
9.8
通讯作者:
Chance, PF
Chance, PF
中科院分区:
生物学1区
文献类型:
--
作者:
Chen, YZ;Bennett, CL;Chance, PF

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幼年型肌萎缩性侧索硬化症(ALS4)是一种罕见的常染色体显性形式的幼年型肌萎缩性侧索硬化症(ALS),其特征是远端肌肉无力和萎缩,感觉正常和锥体束征。受ALS4影响的个体通常在以下年龄出现症状:
Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs. Individuals affected with ALS4 usually have an onset of symptoms at age