Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række
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SOD1 mutations account for less than 25 % of cases with familial amyotrophic lateral sclerosis and may cause atypical phenotypes. ⋯ The H46R SOD1 mutation in this case of familial amyotrophic lateral sclerosis causes a slowly progressive lower motor neuron disease that remains restricted to the legs for years or even decades.