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Coenzyme Q10 deficiency

From SNPedia

Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10. The severity, combination of signs and symptoms, and age of onset of primary coenzyme Q10 deficiency vary widely.GHR

Coenzyme Q10 deficiency is usually caused by recessively inherited mutations in genes that provide instructions for making proteins involved in the production (synthesis) of a molecule called coenzyme Q10. Collectively, they are called the COQ genes. Most of the identified mutations have occurred in the COQ2, COQ4, COQ6, COQ8A, and COQ8B genes