New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
Serena Mero, Leonardo Salviati, Vincenzo Leuzzi, Anna Rubegni, Cristina Calderan, Francesca Nardecchia, Daniele Galatolo, María Andrea Desbats, Valentina Naef, Federica Gemignani, María Novelli, Alessandra Tessa, Roberta Battini, Filippo M. Santorelli, Maria Marchese
Topics & Concepts
Missense mutationBiologyAtaxiaCompound heterozygosityZebrafishPhenotypeGeneticsComplementationMutationGeneNeuroscienceCoenzyme Q10 studies and effectsAdvanced battery technologies researchMitochondrial Function and Pathology