Genetic & Genomic MedicineEMBO Molecular MedicinePeer-reviewed
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
Sara M. Fielder, Marisa W. Friederich, Daniella Helena Hock…·Stephen C. Pak
This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.
10 citations