This website provides information on patients with mutations in the NUBPL gene, including clinical data, molecular data, management and research options.
Recessive pathogenic variants in the NUBPL gene cause Complex I deficiency, a type of mitochondrial disease. Clinical presentation can be variable but onset of symptoms was usually noted in infants and toddlers, namely as some form of developmental delay.
Not all individuals with a mutation in the NUBPL 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 NUBPL gene.
Peggy S. Eis, PhD, Population Bio, Inc., New York City, NY, USA, firstname.lastname@example.org
Eli Hatchwell, MD, PhD, Population Bio UK, Inc., Oxfordshire, UK, email@example.com
Virginia Kimonis, MD, Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine School of Medicine, Irvine, CA, USA, firstname.lastname@example.org
Birgitt Schuele, MD, Department Pathology, Stanford University School of Medicine, Stanford, CA, USA, email@example.com