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  • Updated 03.04.2024
  • Released 02.04.2011
  • Expires For CME 03.04.2027

Mitochondrial disorders



In this review of what is probably the most heterogeneous group of human diseases (the mitochondrial diseases, including encephalomyopathies), the author offers 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 and 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.

Key points

• Abnormalities in mitochondria can impact any high-energy organ, including the brain, heart, kidney, gastrointestinal tract, retina, and muscle.

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ISSN: 2831-9125