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

More general terms

• combined oxidative phosphorylation deficiency (COXPD)

Database

• OMIM: https://mirror.omim.org/entry/614096