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combined oxidative phosphorylation deficiency type 3 (COXPD3)
Pathology:
- severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy
- severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of 3 of the oxidative phosphorylation complexes
Genetics:
- associated with defects in TSFM
General
combined oxidative phosphorylation deficiency (COXPD)
Database Correlations
OMIM 610505
References
UniProt :accession P43897