Enzephalopathie aufgrund mitochondrialer Defekte basierend auf Mutationen in nukleär-kodierten Genen (Leigh Syndrom), erweiterte Diagnostik
AARS, C10orf2, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GFAP, GFER, GFM1, IBA57, LRPPRC, LYRM7, MARS2, MICU1, MPV17, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6. NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PANK2, PC, PDHB, PDHX, PDP1, PNPT1, PTCD1, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO1, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SLC19A2, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG7, STXBP1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM70, TPK1, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, YARS2
