combined oxidative phosphorylation deficiency 10

Term ID

DOID:0111480

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/22608499

References

• MIM:614702
• ORDO:314637

Ontology

Human Disease   ( DOID:0111480 )