RT Journal Article
T1 Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations
A1 Alcázar Fabra, María
A1 Rodríguez-Sánchez, Francisco
A1 Trevisson, Eva
A1 Brea Calvo, Gloria Teresa
K1 Coenzyme Q primary deficiency
K1 Genotype-phenotype correlation
K1 Mitochondrial diseases
K1 Rare diseases
K1 Web-based live platform
AB 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.
PB Elsevier
YR 2021
FD 2021-03-04
LK http://hdl.handle.net/10433/12820
UL http://hdl.handle.net/10433/12820
LA en
NO Free Radical Biology and Medicine, vol 167, p. 141-180
NO Centro Andaluz de Biología del Desarrollo
NO CIBERER
DS RIO
RD May 10, 2026