Cytochrome C Oxidase Deficiency Latest Advances
Find the Latest Research About Cytochrome C Oxidase Deficiency
Last Updated: 06/30/2026
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Found 752 publications
A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.
Journal: Neuromuscular disorders : NMD
Published: February 23, 2026
Mapping metabolic dependences and capacities using ATP as a biomarker.
Journal: Research square
Published: December 31, 2025
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.
Journal: Nature communications
Published: September 01, 2025
Two Siblings with LRPPRC Mutation: Mitochondrial Complex IV Deficiency: Case Report.
Journal: Molecular syndromology
Published: August 13, 2025
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.
Journal: Mitochondrion
Published: July 29, 2025
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.
Journal: American journal of human genetics
Published: March 04, 2025
Protein Nitration in Patients with Mitochondrial Diseases.
Journal: Antioxidants (Basel, Switzerland)
Published: December 17, 2024
Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review.
Journal: International journal of women's health
Published: November 26, 2024
A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up.
Journal: Case reports in medicine
Published: October 18, 2024
Last Updated: 06/30/2026