This website provides information on patients with mutations in the COQ2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the COQ2 gene is a multisystem disorder characterized by: Nephrotic syndrome, Encephalopathy and Muscle Coenzyme Q10 deficiency.

Not all individuals with a mutation in the COQ2 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 COQ2 gene.

Catarina M Quinzii, MD, Associate professor of Neurology, Columbia University Medical Center, New York, USA, cmq2101@columbia.edu

Eva Trevisson, M.D., Ph.D., Assistant Professor of Medical Genetics, Padova, Italy, eva.trevisson@unipd.it