This website provides information on patients with mutations in the NDUFS6 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NDUFS6 gene is an autosomal recessive multisystem disorder (MIM618232) characterized by severe neonatal lactic acidemia and complex I deficiency leading to death in the first days of life in most of the described patients. Mutations in the NDUFS6 gene can also lead to Leigh syndrome. Not all individuals with a mutation in the NDUFS6 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 NDUFS6 gene.
Cécile Rouzier, MD, PhD, Université Côte d’Azur, Inserm, CNRS, IRCAN, CHU de Nice, Nice, France, firstname.lastname@example.org
Annabelle Chaussenot, MD, Université Côte d’Azur, Inserm, CNRS, IRCAN, CHU de Nice, Nice, France, email@example.com