Dr. Chapman of George Washington University and Children’s National Rare Disease Institute has no relevant financial relationships to disclose.)
Dr. Ciafaloni of the University of Rochester received consulting fees from Biogen and Pfeizer and research grants from Sarepta and Santhera.)
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.
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