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combined oxidative phosphorylation deficiency 10
Summary
- Synonym
-
- COXPD10
- infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
- mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Definition
- A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111480
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y2Z2 | Protein MTO1 homolog, mitochondrial |
