Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R.
Neumann MA, et al. Among authors: pines o.
Sci Rep. 2020 Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4.
Sci Rep. 2020.
PMID: 33028849
Free PMC article.