This website provides information on patients with mutations in the SUCLG1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SUCLG1 gene is an autosomal recessive multisystem disorder (MIM245400) characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy.
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 SUCLG1 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