Article
Clinical syndromes associated with Coenzyme Q10 deficiency.
Essays in biochemistry - 20 Jul 2018
Alcázar-Fabra María, Trevisson Eva, Brea-Calvo Gloria
Abstract excerpt
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level. The associated clinical manifestations are highly heterogeneous and mainly affect central and peripheral nervous system, kidney, skeletal muscle and heart. Genotype-phenotype correlations are difficult to establish, mainly because...
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