Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel R. Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M. de Gusmão, Tomi L. Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi
Topics & Concepts
BiologyAllelePhenotypeCompound heterozygosityGeneticsDiseaseMitochondrial diseaseGeneInternal medicineMedicineMitochondrial DNACoenzyme Q10 studies and effectsAdvanced battery technologies researchBiochemical Acid Research Studies