Muscular dystrophies: Mechanisms

Peter B. Kang, Louis M. Kunkel

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Since the cloning of the gene responsible for Duchenne and Becker muscular dystrophy two decades ago, a number of other genes have been associated with various forms of muscular dystrophy. The protein products of these genes display a diversity of cellular localizations and functions, suggesting a complex pathophysiology within this class of disorders. Two recently identified functions of selected proteins include membrane repair and glycosylation, providing important insights into the disease process. A definitive cure remains elusive, but supportive therapies have become increasingly sophisticated, improving the quality of life and lengthening the life expectancy for many affected individuals.

Original languageEnglish (US)
Title of host publicationPrinciples of Molecular Medicine
PublisherHumana Press
Pages693-699
Number of pages7
ISBN (Print)9781588292025
DOIs
StatePublished - 2006
Externally publishedYes

Keywords

  • Becker
  • calpain
  • congenital muscular dystrophy
  • duchenne
  • dysferlin
  • dystroglycan
  • dystrophin
  • facioscapulohumeral muscular dystrophy
  • limb-girdle
  • merosin
  • muscular dystrophy
  • sarcoglycan

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