The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Multiple Deletions of Mitochondrial DNA
Multiple Deletions of Mitochondrial DNA
Disease Category: Mitochondrial Disorders
A term referring to more than one piece of DNA (genetic material) that is missing within the mitochondria (specialized cell structures that produce energy). These DNA pieces may differ in size. Disorders caused by the missing mitochondrial DNA are often inherited due to mutations in nuclear DNA (genetic material found in the nucleus of cells) which are responsible for repairing, building, or maintaining mitochondrial DNA. These disease affects the muscles, nerves, eyes, and heart and often present as chronic progressive external ophthalmoplegia (see above).
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.