Associated Papers
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.
Ugarteburu O et al.
Mitochondrion, 2026
Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures.
Liu Z et al.
Epilepsia Open, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Mitochondrial disease and epilepsy in children.
Zhang X et al.
Frontiers in Neurology, 2024
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
Pillai NR et al.
American Journal of Medical Genetics. Part A, 2019
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