# combined oxidative phosphorylation deficiency

> Human disease

**Wikidata**: [Q18987134](https://www.wikidata.org/wiki/Q18987134)  
**Source**: https://4ort.xyz/entity/combined-oxidative-phosphorylation-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
4. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
5. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
6. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
7. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies
8. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
9. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
10. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
11. Targeted exome sequencing of suspected mitochondrial disorders
12. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency
13. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
14. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
15. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy
16. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
17. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
18. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy
19. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
20. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation
21. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
22. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
23. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
24. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
25. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy
26. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000027001/Orphanet_35696)
27. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000074071/Orphanet_35696)
28. [Identifiers.org](https://registry.identifiers.org/registry/doid)
29. UMLS 2023