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Mitochondrial myopathies: Clinical features and diagnosis

Erin O'Ferrall, MD
Section Editors
Jeremy M Shefner, MD, PhD
Sihoun Hahn, MD, PhD
Deputy Editor
John F Dashe, MD, PhD


Mitochondrial diseases present with a wide range of clinical expression. Organ systems relying most on aerobic metabolism are preferentially affected and involvement of the nervous system is common. When skeletal muscle is affected, either alone or with central nervous system disease, the term mitochondrial myopathy is used.

The epidemiology, clinical manifestations, and diagnosis of the mitochondrial myopathies are discussed in this topic review. Treatment is discussed elsewhere. (See "Mitochondrial myopathies: Treatment".)


Mitochondria are the cellular organelles responsible for oxidative phosphorylation, which produces energy in the form of adenosine triphosphate (ATP). Mitochondrial diseases can be divided into the following categories based on the primary genetic defect (table 1):

Respiratory chain proteins

Respiratory chain ancillary proteins

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Literature review current through: Sep 2017. | This topic last updated: Jul 31, 2017.
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