Metabolic and mitochondrial myopathies.
Metabolic myopathies are the result of genetic defects that cause disordered energy metabolism. These diseases can cause a variety of myopathic syndromes and can become clinically manifest at any age. Recent advances in the understanding of the molecular and metabolic bases for these diseases have resulted in expanded clinical descriptions, recognition of additional entities, and development of new therapeutic approaches.
Wortmann
R L
RL
University of Oklahoma College of Medicine, Tulsa 74129-1077, USA.
D006801:Humans; D017240:Mitochondrial Myopathies / Q000209:etiology / Q000503:physiopathology* / Q000628:therapy