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| Number of patients | Percent of patients | Mutations | |
| Complex I defect | 16 | 64 | |
| Complex II defect | 2 | 8 | |
| Complex III defect | 5 | 20 | |
| Complex IV defect | 1 | 4 | |
| mtDNA tRNA mutation | 1 | 4 | |
| mtDNA sequence variants of probable pathogenicity | 2 | 8 | 3397A>G; 4295A>G |
| mtDNA sequence variants of unclear pathogenicity | 4 | 16 | 3394T>C; 10394C>T; 11809T>C; 11984T>C |
