This website provides information on patients with mutations in the COQ9 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the COQ9 gene is a multisystem disorder called primary coenzyme Q10 deficiency, characterized by a spectrum of clinical manifestations affecting various organ systems. This may include neurological abnormalities, muscle weakness, and cardiac issues. Individuals with COQ9 gene mutations can exhibit a range of symptoms, and the severity and combination of features may vary among affected individuals.

Not all individuals with a mutation in the COQ9 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the COQ9 gene.

Halil Tuna Akar, MD, Ankara Etlik City Hospital, Ankara Turkey, akarhaliltuna@gmail.com

Asburce Olgac, MD, Ankara Etlik City Hospital, Ankara Turkey