Article
Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis.
The International journal of neuroscience - 1 Apr 2011
Zhao Guohua, Yin Xinzhen, Wu Dingwen, Mao Shanying, Yin Houmin, Zhang Baorong
Abstract excerpt
Clinical information of two families with amyotrophic lateral sclerosis (ALS) was studied and a mutation analysis of the SOD1 gene was performed using direct DNA sequencing. Two previously reported mutations of the SOD1 gene, G20T (Cys6Phe substitution), and G255C (Leu84Phe substitution), were identified and cosegregated with the disease in the two families. Patients with a Cys6Phe mutation demonstrated rapid...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.