A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000409:Alanine / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013482:Superoxide Dismutase / Q000235:genetics*; D014633:Valine / Q000235:genetics
D013482:Superoxide Dismutase; D014633:Valine; D000409:Alanine