SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Stiff limbs ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0558193
Disease: Stiff limbs
Stiff limbs 		0.010 GeneticVariation phenotype BEFREE We identified a novel mutation in SOD1 in a man who presented at age 49 with lower limb stiffness, and at age 53, a spastic paraparesia with distal muscular atrophy in the lower limbs and fasciculations in the quadriceps.A diagnosis of ALS was established. 23954173 2014