Table 3 Comparison of the clinical features of MELAS with 14453G → A mutation
Author (year) | Age, y /Sex | Mutation | Locus | Mutation rate Muscle /Blood | Phenotype | Clinical features | mRS Peak /Current | FU (Months) |
|---|---|---|---|---|---|---|---|---|
Ravn (2001) | 7/F | 5628 T → C 13535A → C 14453G → A | MTTA ND5 ND6 | NR NR 82%/78% | MELAS | Myoclonic epilepsy, partial seizure, ataxia with dystonia | 5/NR | NR |
Present case | 74/M | 189A → G 14453G → A 16129G → A | D-loop ND6 D-loop | 45%/NE 53%/NE 81%/NE | MELAS | Cognitive impairment, psychosis, left hemiparesis | 5/2 | 8 |