Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations.
Deborah
D
Bathgate
Patrick
P
Yu-Wai-Man
Brian
B
Webb
Robert W
RW
Taylor
Brian
B
Fowler
Patrick F
PF
Chinnery
D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2) / Q000235:genetics*; D018450:Disease Progression; D042967:Electron Transport Complex I / Q000172:deficiency*; D005808:Genes, Recessive / Q000235:genetics; D006710:Homocysteine / Q000097:blood; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000235:genetics*; D035781:Siblings; D055815:Young Adult
D006710:Homocysteine; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042967:Electron Transport Complex I