Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management

Curr Pharm Des. 2010;16(8):978-87. doi: 10.2174/138161210790883471.


Muscle degeneration and regeneration are two of the most evident pathological events characterizing muscular diseases and in particular muscular dystrophies. Muscular dystrophies are an heterogeneous group of hereditary diseases affecting both children and adults, and are characterized by muscle wasting and weakness. Until now at least 30 different genes have been associated with muscular dystrophies. They have been divided into several subgroups depending on the distribution of the muscle weakness. Thus, the histopathological markers of all these forms are dystrophic changes at the muscle biopsy characterized by fiber size variability, fibres necrosis, regeneration, inflammation and connective tissues deposition. As for now, no effective therapy is available for these diseases but new inside has now been expanded in regenerative therapy such as cell therapy and gene therapy. This review is focused on muscular dystrophies and new acknowledgments in regenerative therapy.

Publication types

  • Review

MeSH terms

  • Genetic Therapy / methods
  • Humans
  • Models, Biological
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism
  • Muscle, Skeletal / surgery*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / therapy*
  • Mutation
  • Myostatin / therapeutic use
  • Stem Cell Transplantation / methods
  • Transforming Growth Factor beta1 / therapeutic use


  • Muscle Proteins
  • Myostatin
  • Transforming Growth Factor beta1