Journal
ANNALS OF MEDICINE
Volume 45, Issue 1, Pages 4-16Publisher
TAYLOR & FRANCIS LTD
DOI: 10.3109/07853890.2011.605389
Keywords
Diagnosis; mitochondrial disorders; mitochondrial myopathy; treatment
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Funding
- Clinician Investigator Program from the University of British Columbia
- Bisby Fellowship from the Canadian Institutes of Health Research
- Medical Research Council (UK)
- Association Francaise contre les Myopathies
- UK NIHR Biomedical Research Centre for Ageing and Age-related disease award
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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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