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 of the reduced number of patients and the large variety of symptoms. In addition, mutations in the same COQ gene can cause different clinical pictures. Here, we present an updated and comprehensive review of the clinical manifestations associated with each of the pathogenic variants causing primary CoQ deficiencies.
Clinical syndromes associated with Coenzyme Q10 deficiency
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Caterina Garone, Michal Minczuk, María Alcázar-Fabra, Eva Trevisson, Gloria Brea-Calvo; Clinical syndromes associated with Coenzyme Q10 deficiency. Essays Biochem 20 July 2018; 62 (3): 377–398. doi: https://doi.org/10.1042/EBC20170107
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