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combined oxidative phosphorylation deficiency type 8 (COXPD8)

Pathology: - mitochondrial disease Genetics: - associated with defects in AARS2 Clinical manifestations: - lethal infantile hypertrophic cardiomyopathy - generalized muscle dysfunction - some neurologic involvement - liver is not affected

General

combined oxidative phosphorylation deficiency (COXPD)

Database Correlations

OMIM 614096

References

  1. UniProt :accession P49411
  2. OMIM :accession 614096