A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis

NH Kim, HJ Kim, M Kim, KW Lee - Journal of the neurological sciences, 2003 - Elsevier
Background: Superoxide dismutase 1 (SOD1) gene mutations are responsible for
approximately 20% of all familial amyotrophic lateral sclerosis (ALS) cases. However, these
cases, especially those with SOD1 gene mutations, have not been reported in Korea.
Objectives: The SOD1 gene in Korean family with ALS was screened for potential mutations
and the clinical data was collected. Materials and methods: The clinical histories and
neurological findings of the family members were obtained. Genomic DNA was isolated from …