Diagnosis and treatment of mitochondrial myopathies.

Patrick F Chinnery, Gerald Pfeffer

Journal: Annals of medicine 2013;45(1):4-16

PMID: 21867371

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.

Address: Institute of Genetic Medicine, Newcastle University, Newcastle NE13BZ, United Kingdom.

DOI: 10.3109/07853890.2011.605389

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MeSH Terms: Biopsy, Cytochrome-c Oxidase Deficiency, Deglutition Disorders, Dietary Supplements, Endocrine System Diseases, Exercise Test, Exercise Therapy, Hearing Disorders, Heart Diseases, Humans, Mitochondrial Myopathies, Muscle, Skeletal, Ubiquinone, Vision Disorders, Vitamins