title: Metabolic and mitochondrial myopathies.
abstract: Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature muscle fatigue, sometimes leading to myalgia, rhabdomyolysis, and myoglobinuria, typically occur with exercise that would normally depend on the defective metabolic pathway. But in another group of these disorders, the dominant muscle symptom is weakness. This article reviews the clinical features, diagnosis, and management of these diseases with emphasis on the recent literature.
authors.affiliation: Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, 7232 Greenville Avenue, Dallas, TX 75231, USA.
authors.forename: Lydia J
authors.initials: LJ
authors.lastname: Sharp
authors.affiliation: Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, 7232 Greenville Avenue, Dallas, TX 75231, USA; North Texas VA Medical Center, 4500 South Lancaster Road, Dallas, TX 75216, USA. Electronic address: Ronald.Haller@UTSouthwestern.edu.
authors.forename: Ronald G
authors.initials: RG
authors.lastname: Haller
mesh_terms: D000328:Adult; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D052439:Lipid Metabolism Disorders / Q000175:diagnosis* / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis*; D055815:Young Adult
keywords: Exercise intolerance; Fatty acid oxidation defects; Glycogen storage diseases; Metabolic myopathies; Mitochondrial myopathies