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Combined Oxidative Phosphorylation Deficiency 4

Known as: COXPD4 
National Institutes of Health

Related topics

Related topics

10 relations
Acidosis, LacticAutosomal recessive inheritanceDevelopmental regressionFetal Growth Retardation

Broader (2)

Inborn Errors of MetabolismMitochondrial Diseases

Papers overview

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2019
2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
Translation of mitochondrial-specific DNA is required for proper mitochondrial function and energy production. For this purpose… 
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