More than 110 genes in nuclear and mitochondrial DNA can cause Leigh syndrome with more being discovered.
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Nuclear Genes
AARS2, ACAD9, ACO2, AFG3L2, AIFM1, APOPT1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, C12orf65, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1, GFM2, GTPBP3, GYG2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1, MPV17, MRPL44, MRPS22, MTFMT, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A46, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRQ, VARS2
Maternally Inherited Leigh Syndrome(MILS)
MT-TW, MT-TL1,MT-TL2, MT-ATP6, MT-CO3, MT-ND1, MT-ND5, MT-ND6,MT-TV, MT-TV, MT-TK, MT-ND2, MT-ND3, MT-ND4, MT-TI