The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove, Jessica C. Lee, Kaz M. Knight, Tonia E. Donovan, Lori Silveira, Rebecca D. Ganetzky, Michio Hirano, José E. Abdenur, Merlin G. Butler, David M Cassiman, Bruce H. Cohen, Sarah H. Elsea, Gregory M. Enns, , Jennifer H. Yang
Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.
medRxiv · Jun 15, 2026 · PreprintGenetic & Genomic Medicine