Article
Human coenzyme Q10 deficiency.
Neurochemical research - 1 Jan 2000
Quinzii Catarina M, DiMauro Salvatore, Hirano Michio
Abstract excerpt
Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may be related to the multiple steps in CoQ(10) biosynthesis. Patients with all forms of CoQ(10) deficiency have shown clinical...
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