Phenotype | Mutation | Inheritance | Reference |
---|---|---|---|
ADOAC, autosomal dominant optic atrophy with cataract; MGA, type III 3-methylglutaconic aciduria. | |||
MGA | IVS1-1G-C | Recessive | Anikster et al14 |
MGA | 320–337del | Recessive | Kleta et al15 |
ADOAC | 277G>A | Dominant | Present study |
ADOAC | 313C>G | Dominant | Present study |