A novel homozygous p.ser69pro sod1 mutation causes severe young-onset als with decreased enzyme activity

HIGHLIGHTS

• who: Nagia Fahmy from the Neuromuscular Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt have published the research: A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity, in the Journal: (JOURNAL)
• what: The authors report with decreased enzymatic and severe early ALS phenotype. The authors report on a novel homozygous SOD1 mutation c.205T > C (p.Ser69Pro) associated with early onset of an ALS phenotype with initial asymmetrical paresis of the lower limbs, an ascending pattern of rapid disease with predominantly lower motor neuron features and later . . .
  

   

  

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