Metabolic myopathies.
Six glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: clinical heterogeneity, biochemical heterogeneity, evidence for tissue-specific and developmentally controlled isozymes, and molecular genetic studies.
D001731:Bisphosphoglycerate Mutase / Q000172:deficiency / Q000235:genetics; D030401:Cytochrome-c Oxidase Deficiency; D004579:Electron Transport; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency* / Q000235:genetics; D005959:Glucosidases / Q000172:deficiency*; D006008:Glycogen Storage Disease / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000235:genetics; D006019:Glycolysis; D006801:Humans; D008931:Mitochondria, Muscle / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism*; D010732:Phosphofructokinase-1 / Q000172:deficiency; D006005:Phosphorylases / Q000172:deficiency / Q000235:genetics; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D006005:Phosphorylases; D010732:Phosphofructokinase-1; D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase; D001731:Bisphosphoglycerate Mutase