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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-05-2018
Symbol COXPD8
Location 6p21.1
Name combined oxidative phosphorylation deficiency-8
Corresponding gene AARS2
Main clinical features
  • dysfunction of the mitochondrial respiratory chain
  • clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there is also subtle skeletal muscle and brain involvement
  • failure to thrive, delayed motor development, and severe generalized muscle weakness, with severe hypertrophic cardiomyopathy and decreased contractility
  • invariable progression to severe disability and atrophy of involved brain regions, often within a decade (PMID: 31839000))
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease