Muscle diseases: The muscular dystrophies

Elizabeth M. McNally*, Peter Pytel

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

114 Scopus citations


Dystrophic muscle disease can occur at any age. Early- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, and cardiac and respiratory function. Late-onset muscular dystrophies or myopathies may be mild and associated with slight weakness and an inability to increase muscle mass. The phenotype of muscular dystrophy is an endpoint that arises from a diverse set of genetic pathways. Genes associated with muscular dystrophies encode proteins of the plasma membrane and extracellular matrix, and the sarcomere and Z band, as well as nuclear membrane components. Because muscle has such distinctive structural and regenerative properties, many of the genes implicated in these disorders target pathways unique to muscle or more highly expressed in muscle. This chapter reviews the basic structural properties of muscle and genetic mechanisms that lead to myopathy and muscular dystrophies that affect all age groups.

Original languageEnglish (US)
Title of host publicationAnnual Review of Pathology
Subtitle of host publicationMechanisms of Disease
PublisherAnnual Reviews Inc
Number of pages23
ISBN (Print)0824343026, 9780824343026
StatePublished - 2007

Publication series

NameAnnual Review of Pathology
ISSN (Print)1553-4006
ISSN (Electronic)1553-4014


  • Dystrophin
  • Lamin A/C
  • Muscle regeneration
  • Myotonia
  • Nucleotide repeat expansion
  • Sarcopenia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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