%0 Journal Article
%A Alcázar Fabra, María
%A Rodríguez-Sánchez, Francisco
%A Trevisson, Eva
%A Brea Calvo, Gloria Teresa
%T Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations
%D 2021
%U http://hdl.handle.net/10433/12820
%X Primary Coenzyme Q (CoQ) deficiencies are clinically heterogeneous conditions and lack clear genotypephenotypecorrelations, complicating diagnosis and prognostic assessment. Here we present a compilation ofall the symptoms and patients with primary CoQ deficiency described in the literature so far and analyse the mostcommon clinical manifestations associated with pathogenic variants identified in the different COQ genes. Inaddition, we identified new associations between the age of onset of symptoms and different pathogenic variants,which could help to a better diagnosis and guided treatment.To make these results useable for clinicians, we created an online platform (https://coenzymeQbiology.github.io/clinic-CoQ-deficiency) about clinical manifestations of primary CoQ deficiency that will be periodicallyupdated to incorporate new information published in the literature. Since CoQ primary deficiency is a raredisease, the available data are still limited, but as new patients are added over time, this tool could become a keyresource for a more efficient diagnosis of this pathology.
%K Coenzyme Q primary deficiency
%K Genotype-phenotype correlation
%K Mitochondrial diseases
%K Rare diseases
%K Web-based live platform
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