Abstract
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.
Acknowledgements
G.P. is the recipient of funding from the Clinician Investigator Program from the University of British Columbia, and from a Bisby Fellowship from the Canadian Institutes of Health Research.
P.F.C. is an Honorary Consultant Neurologist at Newcastle upon Tyne Foundation Hospitals NHS Trust. He is a Wellcome Trust Senior Fellow in Clinical Science and a UK NIHR Senior Investigator who also receives funding from the Medical Research Council (UK), the Association Française contre les Myopathies, and the UK NIHR Biomedical Research Centre for Ageing and Age-related disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust.
Declaration of interest: No competing interests are reported.