"Currently more than 50 different types of COXPD have been described, each caused by damaging variants in genes critical to the integrity of mitochondrial oxidative phosphorylation." https://t.co/uhaXD6ZKd2
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3,640 followers
https://t.co/TBSUhmWZc9 "COXPD8, which arises from variants in the AARS2 gene, has been shown to cause lethal cardiomyopathy."
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https://t.co/TBSUhmWZc9 "All forms of this COXPD caused by pathogenic aaRS variants cause damage to the CNS (which requires an abundant and constant energy supply)." "Other common features include liver disease, visual impairment, and microcephaly."
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https://t.co/TBSUhmWZc9 "The most common biallelic disease category associated with mitochondrial aaRSs is COXPD." "To date, eight mitochondrial aaRS-encoding genes have been found to cause various forms of COXPD (MARS2, CARS2, EARS2, VARS2, TARS2, AARS2