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combined oxidative phosphorylation deficiency type 4 (COXPD4)
Pathology:
- neonatal lactic acidosis
- rapidly progressive encephalopathy
- severely decreased mitochondrial protein synthesis
- combined deficiency of mtDNA-related mitochondrial respiratory chain complexes
Genetics:
- associated with defects in TUFM
General
combined oxidative phosphorylation deficiency (COXPD)
Database Correlations
OMIM 610678
References
UniProt :accession P49411