Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family.
Delia GagliardiMinoo AhmadinejadRoberto Del BoMegi MeneriGiacomo Pietro ComiStefania CortiDario RonchiPublished in: Neurology. Genetics (2021)
variants and suggests that the development of an earlier-onset and/or faster disease progression can occur when 2 mutated alleles are present.