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Chapter 10,784

Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis

Naini, A.; Musumeci, O.; Hayes, L.; Pallotti, F.; Del Bene, M.; Mitsumoto, H.

Journal of the Neurological Sciences 198(1-2): 17-19

2002

ISSN/ISBN: 0022-510X
PMID: 12039658
DOI: 10.1016/s0022-510x(02)00052-7
Accession: 010783478
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We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS). The enzymatic activity of mutated SOD-1 measured in erythrocyte lysate was 70% of control. This heterozygote mutation, which is associated with the late onset of the disease, is located in the active site of the enzyme.

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