Article
A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2018
Li Yanran, Sun Bo, Chen Siyu, Ren Yuting, Cui Fang, Yang Fei, Chen Zhaohui, Ling Li, Huang Xusheng
Abstract excerpt
We reported a novel heterozygous duplication mutation (c.272_274dupACA, D90_K91insN) in exon 4 of the SOD1 gene in a Chinese pedigree. This pedigree demonstrates an autosomal dominant pattern of inheritance, with potentially reduced penetrance. The clinical phenotype was rather uniform with a distal lower extremity onset, predominant involvement of lower motor neurons (LMNs), and a relatively short survival time...
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