| Erkrankung | Gen(e) |
|---|
| Kearns-Sayre-Syndrom | MTTL |
| Leber hereditäre Optikus | MTND1 MTND2 MTND4 MTND5 MTND6 MTCO1 MTCO3 MTATP6 MTCYB |
| Leigh Syndrom | BCS1L COX10 COX15 FOXRED1 NDUFA10 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF6 NDUFS3 NDUFS4 NDUFS7 NDUFS8 SDHA SURF1 |
| MELAS | MTTL1 MTTQ MTTH MTTK MTTS1 MTND1 MTND5 MTND6 MTTS2 |
| MERRF | MTTL1 MTTH MTTK MTTS1 MTND5 MTTS2 MTTF |
| Mitochnodriales Depletionssyndrom | C10orf2 DGUOK FBXL4 MGME1 MPV17 POLG POLG RRM2B RRM2B SLC25A4 SUCLA2 SUCLG1 TK2 TYMP |
| Mitochondriale Myopathie | mit |
| Externe Opthalmoplegie | C10orf2 DNA2 POLG POLG2 RRM2B SLC25A4 |
| NARP | MTATP6 |