Mitochondrial disorders

Salvatore DiMauro MD (Dr. DiMauro, Director Emeritus of H Houston Merritt Clinical Center for the Study of Muscular Dystrophy and Related Diseases at Columbia University, has no relevant financial relationships to disclose.)
Originally released February 4, 2011; last updated March 3, 2016; expires March 3, 2019

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.

Overview

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

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