Metabolic myopathies.

Abstract

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.

• Authors: S DiMauro, A F Miranda, S Sakoda, E A Schon, S Servidei, S Shanske, M Zeviani
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 25 Issue 4 Pg. 635-51 (Dec 1986) ISSN: 0148-7299 [Print] United States
• PMID: 2878616 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Phosphorylases
• Phosphofructokinase-1
• Glucosidases
• Glucan 1,4-alpha-Glucosidase
• Bisphosphoglycerate Mutase

Topics

• Bisphosphoglycerate Mutase (deficiency, genetics)
• Cytochrome-c Oxidase Deficiency
• Electron Transport
• Glucan 1,4-alpha-Glucosidase (deficiency, genetics)
• Glucosidases (deficiency)
• Glycogen Storage Disease (genetics)
• Glycogen Storage Disease Type V (genetics)
• Glycolysis
• Humans
• Mitochondria, Muscle (metabolism)
• Muscular Diseases (genetics, metabolism)
• Phosphofructokinase-1 (deficiency)
• Phosphorylases (deficiency, genetics)
• Polymorphism, Genetic
• Polymorphism, Restriction Fragment Length