# mitochondrial complex I deficiency

> Human disease

**Wikidata**: [Q23542367](https://www.wikidata.org/wiki/Q23542367)  
**Source**: https://4ort.xyz/entity/mitochondrial-complex-i-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit
5. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
6. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
7. SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.
8. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
9. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
10. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
11. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease
12. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
13. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
14. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
15. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
16. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
17. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene
18. [Identifiers.org](https://registry.identifiers.org/registry/doid)