Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | PUS1 | 80324 | pseudouridylate synthase 1 | |
Human | C20orf7 | 79133 | | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | |
Human | ISCU | 23479 | iron-sulfur cluster assembly enzyme | Gene ISCU was identified as a candidate within a region of shared homozygosity among patients with myopathy with severe exercise intolerance and myoglobinuria |
Human | POLG2 | 11232 | polymerase (DNA directed), gamma 2, accessory subunit | |
Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | |
Human | POLG | 5428 | polymerase (DNA directed), gamma | |
Human | PHKA1 | 5255 | phosphorylase kinase, alpha 1 (muscle) | |
Human | PGK1 | 5230 | phosphoglycerate kinase 1 | |
Human | PFKM | 5213 | phosphofructokinase, muscle | Exercise intolerance often evident in childhood |
Human | NDUFS6 | 4726 | NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) | |
Human | NDUFS4 | 4724 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) | |
Human | NDUFV1 | 4723 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | |
Human | NDUFS2 | 4720 | NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) | |
Human | NDUFS1 | 4719 | NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) | |
Human | NDUFA1 | 4694 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa | |
Human | TRNK | 4566 | tRNA | A 8328G>A tRNALys mutation was detected in a 59 year old man with myopathy and exercise intolerance We identified a novel heteroplasmic mutation (8300T > C) in the tRNAlys gene (MTTK) from a patient with unexplained exercise intolerance |
Human | ND5 | 4540 | NADH dehydrogenase, subunit 5 (complex I) | We describe a patient with isolated exercise intolerance caused by a new, maternally inherited mutation in heteroplasmic T>C transition at position 13271 in MTND5 |
Human | LAMP2 | 3920 | lysosomal-associated membrane protein 2 | |
Human | COX6B1 | 1340 | cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) | |
Human | BCS1L | 617 | BC1 (ubiquinol-cytochrome c reductase) synthesis-like | |