Leigh syndrome, NGS
Genelist (104): AIFM1, ALDH5A1, ARX, ATP5MD, BCS1L, BTD, CLPB, COA5, COQ9, COX10, COX14, COX15, COX6B1, COX8A, CPT2, DLAT, DLD, DNM1L, EARS2, ECHS1, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GCDH, GFM1, GFM2, GTPBP3, HIBCH, IARS2, KCNQ2, LIAS, LIPT1, LRPPRC, MFF, MMUT, MRPS34, MTFMT, MTRFR , NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS2, PET100, PET117, PNPT1, POLG, PTCD3, SCO1, SCO2, SCP2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC25A19, SLC25A46, SLC39A8, SQOR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TARS2, TIMMDC1, TLR3, TMEM126B, TPK1, TRMU, TSFM, TTC19, UQCRB, UQCRQ
Featured Review
Genelist (104): AIFM1, ALDH5A1, ARX, ATP5MD, BCS1L, BTD, CLPB, COA5, COQ9, COX10, COX14, COX15, COX6B1, COX8A, CPT2, DLAT, DLD, DNM1L, EARS2, ECHS1, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GCDH, GFM1, GFM2, GTPBP3, HIBCH, IARS2, KCNQ2, LIAS, LIPT1, LRPPRC, MFF, MMUT, MRPS34, MTFMT, MTRFR , NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS2, PET100, PET117, PNPT1, POLG, PTCD3, SCO1, SCO2, SCP2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC25A19, SLC25A46, SLC39A8, SQOR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TARS2, TIMMDC1, TLR3, TMEM126B, TPK1, TRMU, TSFM, TTC19, UQCRB, UQCRQ