Molecular basis of muscular dystrophies

Ronald D. Cohn, Kevin P. Campbell

Research output: Contribution to journalArticle

Abstract

Muscular dystrophies represent a heterogeneous group of disorders, which have been largely classified by clinical phenotype. In the last 10 years, identification of novel skeletal muscle genes including extracellular matrix, sarcolemmal, cytoskeletal, cytosolic, and nuclear membrane proteins has changed the phenotype-based classification and shed new light on the molecular pathogenesis of these disorders. A large number of genes involved in muscular dystrophy encode components of the dystrophin-glycoprotein complex (DGC) which normally links the intracellular cytoskeleton to the extracellular matrix. Mutations in components of this complex are thought to lead to loss of sarcolemmal integrity and render muscle fibers more susceptible to damage. Recent evidence suggests the involvement of vascular smooth muscle DGC in skeletal and cardiac muscle pathology in some forms of sarcoglycan-deficient limb-girdle muscular dystrophy. Intriguingly, two other forms of limb-girdle muscular dystrophy are possibly caused by perturbation of sarcolemma repair mechanisms. The complete clarification of these various pathways will lead to further insights into the pathogenesis of this heterogeneous group of muscle disorders. (C) 2000 John Wiley and Sons, Inc.

Original languageEnglish (US)
Pages (from-to)1456-1471
Number of pages16
JournalMuscle and Nerve
Volume23
Issue number10
DOIs
StatePublished - 2000
Externally publishedYes

Fingerprint

Limb-Girdle Muscular Dystrophies
Dystrophin
Muscular Dystrophies
Extracellular Matrix
Glycoproteins
Skeletal Muscle
Sarcoglycans
Phenotype
Sarcolemma
Nuclear Envelope
Muscular Diseases
Nuclear Proteins
Cytoskeleton
Vascular Smooth Muscle
Genes
Myocardium
Membrane Proteins
Pathology
Muscles
Mutation

Keywords

  • Cardiomyopathy
  • Dystrophin-glycoprotein complex
  • Laminin
  • Muscular dystrophy
  • Sarcoglycan

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Molecular basis of muscular dystrophies. / Cohn, Ronald D.; Campbell, Kevin P.

In: Muscle and Nerve, Vol. 23, No. 10, 2000, p. 1456-1471.

Research output: Contribution to journalArticle

Cohn, Ronald D. ; Campbell, Kevin P. / Molecular basis of muscular dystrophies. In: Muscle and Nerve. 2000 ; Vol. 23, No. 10. pp. 1456-1471.
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