Mitochondrial disorders

Kimberly A Chapman MD PhD (

Dr. Chapman of George Washington University and Children’s National Rare Disease Institute has no relevant financial relationships to disclose.

Emma Ciafaloni MD, editor. (

Dr. Ciafaloni of the University of Rochester received consulting fees from Biogen and Pfeizer and research grants from Sarepta and Santhera.

Originally released February 4, 2011; last updated January 9, 2020; expires January 9 2023

This article includes discussion of mitochondrial disorders, mitochondrial disease, oxidative phosphorylation disease, respiratory chain defects. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.


In this review of what is probably the most heterogeneous group of human diseases (the mitochondrial diseases including encephalomyopathies), the author tries to offer the clinician a rational diagnostic framework. After reminding the reader of the basic concepts of mitochondrial genetics, she offers examples of disorders due to mutations in mitochondrial DNA and mutations in nuclear DNA. She discusses commonly accepted pathogenic mechanisms, although pathogenesis is still largely unknown. Finally, she presents therapeutic strategies, including palliative and research-based approaches.

The content you are trying to view is available only to logged in, current MedLink Neurology subscribers.

If you are a subscriber, please log in.

If you are a former subscriber or have registered before, please log in first and then click select a Service Plan or contact Subscriber Services. Site license users, click the Site License Acces link on the Homepage at an authorized computer.

If you have never registered before, click Learn More about MedLink Neurology  or view available Service Plans.

Find out how you can join MedLink Neurology