title: Diagnosis and treatment of mitochondrial myopathies.
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.
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle NE13BZ, United Kingdom.
authors.forename: Gerald
authors.initials: G
authors.lastname: Pfeffer
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D001706:Biopsy; D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications; D003680:Deglutition Disorders / Q000150:complications; D019587:Dietary Supplements; D004700:Endocrine System Diseases / Q000150:complications / Q000188:drug therapy; D005080:Exercise Test; D005081:Exercise Therapy; D006311:Hearing Disorders / Q000150:complications; D006331:Heart Diseases / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D017240:Mitochondrial Myopathies / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000628:therapy*; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000627:therapeutic use; D014786:Vision Disorders / Q000150:complications; D014815:Vitamins / Q000627:therapeutic use
chemical_list: D014815:Vitamins; D014451:Ubiquinone; C024989:coenzyme Q10