Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?
Naïg Guéguen, Julie Piarroux, Emmanuelle Sarzi, Mehdi Benkirane, Gaël Manès, Cécile Delettre, Pascal Amédro, Nicolas Leboucq, Michel Koenig, Pierre Meyer, Isabelle Meunier, Pascal Reynier, Guy Lenaers, Agathe Roubertie
Topics & Concepts
Lactic acidosisOptic neuropathyMitochondrial diseasePeripheral neuropathyMedicineCompound heterozygosityEncephalopathyCardiomyopathyPhenotypeMitochondrionBeta oxidationMetabolic acidosisInternal medicineGeneticsBiologyGeneEndocrinologyMitochondrial DNAOptic nerveHeart failureOphthalmologyMetabolismDiabetes mellitusMitochondrial Function and PathologyMetabolism and Genetic DisordersATP Synthase and ATPases Research