Article
A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jan 2012
Hu Jun, Chen Kangning, Ni Bing, Li Lusi, Chen Guisheng, Shi Shugui
Abstract excerpt
Familial amyotrophic lateral sclerosis (FALS) accounts for about 5% of cases of the neurodegenerative disorder ALS. At least 100 Cu/Zn superoxide dismutase (SOD1) genetic mutations have been associated with FALS. We identified a FALS family in China with an atypical clinical phenotype. To investigate the SOD1 gene mutations in this family, five exons of the SOD1 gene from each living patient were amplified by PCR...
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