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ENCombined Oxidative Phosphorylation Deficiency 28 (COXPD28)
Alias:
Coxpd28
Neonatal Severe Cardiopulmonary Failure Due to Mitochondrial Methylation Defect
Combined Oxidative Phosphorylation Defect Type 28
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Combined Oxidative Phosphorylation Deficiency 28, also known as coxpd28, is related to combined oxidative phosphorylation deficiency. An important gene associated with Combined Oxidative Phosphorylation Deficiency 28 is SLC25A26 (Solute Carrier Family 25 Member 26). Affiliated tissues include skeletal muscle and heart, and related phenotypes are increased serum pyruvate and generalized hypotonia
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MALACARDS
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