OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy.
Patrick
P
Yu-Wai-Man
Michael I
MI
Trenell
Kieren G
KG
Hollingsworth
Philip G
PG
Griffiths
Patrick F
PF
Chinnery
D000328:Adult; D000368:Aged; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human