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- Gerald Pfeffer and Patrick F Chinnery.
- Institute of Genetic Medicine, Newcastle University, Newcastle NE13BZ, United Kingdom.
- Ann. Med. 2013 Feb 1; 45 (1): 4-16.
AbstractMitochondrial 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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