ErkrankungGen(e)
Kearns-Sayre-SyndromMTTL
Leber hereditäre OptikusMTND1 MTND2 MTND4 MTND5 MTND6 MTCO1 MTCO3 MTATP6 MTCYB
Leigh SyndromBCS1L COX10 COX15 FOXRED1 NDUFA10 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF6 NDUFS3 NDUFS4 NDUFS7 NDUFS8 SDHA SURF1
MELASMTTL1 MTTQ MTTH MTTK MTTS1 MTND1 MTND5 MTND6 MTTS2
MERRFMTTL1 MTTH MTTK MTTS1 MTND5 MTTS2 MTTF
Mitochnodriales DepletionssyndromC10orf2 DGUOK FBXL4 MGME1 MPV17 POLG POLG RRM2B RRM2B SLC25A4 SUCLA2 SUCLG1 TK2 TYMP
Mitochondriale Myopathiemit
Externe OpthalmoplegieC10orf2 DNA2 POLG POLG2 RRM2B SLC25A4
NARPMTATP6