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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

F. Scaglia

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Case report Open access Aug 2026

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10).

A 9-year-old male with biallelic COX14 variants presents an attenuated encephalomyopathic phenotype with novel endocrine and cardiovascular manifestations, underscoring the importance of genomic evaluation in suspected mitochondrial disorders even in the absence of classic biochemical markers such as lactic acidosis.

Elias K. Awad, Emily Waskow, Hari P. Tunuguntla et al. · 0 citations
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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