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  • Updated 01.24.2021
  • Released 02.04.2011
  • Expires For CME 01.24.2024

Mitochondrial disorders

Introduction

Overview

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.

Key points

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

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