This website provides information on patients with mutations in the RMND1 gene, including clinical data, molecular data, management and research options.

Mutations in RMND1 (Required for meiotic nuclear division 1) cause a rare disease associated with defects of the mitochondrial respiratory chain, and variable clinical presentation.  The age of onset varies from infancy to adulthood. In this website, you will find details on clinical, biochemical and molecular characteristics of patients with this disorder, and options for management.

Catarina M Quinzii, MD, Columbia University, New York, US, cmq2101@columbia.edu

Emanuele Barca, MD, PhD, Columbia University, New York, US, eb2877@cumc.columbia.edu