Combined Oxidative Phosphorylation Deficiency 8 (COXPD8)

Combined Oxidative Phosphorylation Deficiency 8, also known as coxpd8, is related to leukoencephalopathy, progressive, with ovarian failure and myopathy, lactic acidosis, and sideroblastic anemia, and has symptoms including generalized muscle weakness and staring spells. An important gene associated with Combined Oxidative Phosphorylation Deficiency 8 is AARS2 (Alanyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways is Type 2 papillary renal cell carcinoma. Affiliated tissues include skeletal muscle and brain, and related phenotypes are failure to thrive and eeg abnormality