Jul 2026
Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.
Histopathological, electron microscopical, biochemical, and molecular characterization of muscle and heart tissue indicated mitochondrial dysfunction with combined complex deficiency associated with a mitochondrial DNA maintenance disorder primarily expressed in the heart.
Rodrigo T. Starosta, Marisa W. Friederich, Graeme Preston et al.
· American Journal of Medical... · 1 citation