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Myopathy, Metabolic

Authors
Publisher
Elsevier Inc.
Identifiers
DOI: 10.1016/b978-0-12-385157-4.00629-1
Keywords
  • Acid Maltase
  • Carnitine Palmitoyltransferase
  • Fatty Acid
  • Glycogen Metabolism
  • Glycogenesis
  • Lipid Metabolism
  • Lipid Storage Myopathy
  • Mcardle'S Disease
  • Metabolic
  • Mitochondrial
  • Myoglobinuria
  • Myopathy
  • Phosphofructokinase
  • Phosphorylase
  • Respiratory Chain
Disciplines
  • Chemistry
  • Medicine

Abstract

Abstract Metabolic myopathies encompass defects in three major biochemical pathways: the lipid metabolism, glycogen metabolism, and mitochondrial respiratory chain and oxidative phosphorylation pathway. These disorders can present as static myopathy or dynamic symptoms such as exercise-induced spasms, cramps, or myoglobinuria. Over the past decade, several new genetic defects have been identified as causes of lipid storage myopathies and glycogenoses.

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