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Hereditary Metabolic Myopathies

  • Armand F. Miranda
  • Tiziana Mongini
  • Salvatore DiMauro
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 182)

Abstract

There are nine known hereditary enzyme defects of glycogen metabolism and glycolysis affecting skeletal muscle. “Metabolic myopathie” can be classified into two main groups: 1. Deficiencies of enzymes that occur in single molecular forms which are already present in fetal tissues and continue to be synthesized throughout life. Defects of these “household enzymes” usually cause functional impairment of muscle, as well as other organs and tissues. 2. Deficiencies of enzymes that occur in multi-molecular forms in different tissues (isozymes) which normally undergo transitions during myogenesis and muscle maturation. This developmentally-regulated process involves a gradual shift from one or more isozymes present in fetal muscle, to a muscle-specific form, which persists throughout post-natal life.

Keywords

Creatine Kinase Glycogen Accumulation Phosphoglycerate Mutase Mature Muscle Muscle Culture 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1985

Authors and Affiliations

  • Armand F. Miranda
    • 1
  • Tiziana Mongini
    • 1
  • Salvatore DiMauro
    • 1
  1. 1.H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related DiseasesColumbia UniversityNew YorkUSA

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