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Author

Elizabeth Mizerik

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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. · 1 citation

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