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Ann Med. 2013 Feb;45(1):4-16. doi: 10.3109/07853890.2011.605389. Epub 2011 Aug 25.

Diagnosis and treatment of mitochondrial myopathies.

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  • 1Institute of Genetic Medicine, Newcastle University, Newcastle NE13BZ, United Kingdom.


Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of these disorders, although this may be overshadowed by central neurological features. This review is aimed at a general medical and neurologist readership and provides a clinical approach to the recognition, investigation, and treatment of mitochondrial myopathies. Emphasis is placed on practical management considerations while including some recent updates in the field.

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