| Gene/Platform/Region List |
AARS2, ABCB7, ACADVL, ADCK3, APTX, BCS1L, BOLA3, C10orf2, CLPP, COQ2, COQ4, COQ9, COX10, CPT2, DARS2, DGUOK, DNA2, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FXN, GFER, GFM1, GLRX1 (GLRX2), GLRX5, HADHA, HARS2, HSD17B1, HSPD1, IARS, IARS2, ISCU, LARS2, MARS2, MFN2, MPV17, MRPS16, MRPS22, NFU1, OPA1, PDHA1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RMRP, RRM2B, SACS, SARS2, SDHA, SDHAF1, SDHB, SDHD, SETX, SLC25A4, SPG7, SUCLA2, SUCLG1, TAZ, TIMM8A, TK2, TSFM, TUFM, TWNK, TYMP, YARS2
|
| Diseases/Conditions |
Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO
|
