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ENCombined Oxidative Phosphorylation Deficiency 49 (COXPD49)
Alias:
Coxpd49
Combined Oxidative Phosphorylation Deficiency, Type 49
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Combined Oxidative Phosphorylation Deficiency 49, is also known as coxpd49. An important gene associated with Combined Oxidative Phosphorylation Deficiency 49 is MIEF2 (Mitochondrial Elongation Factor 2). Related phenotypes are elevated circulating creatine kinase concentration and ragged-red muscle fibers
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MALACARDS
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MGI
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