The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more

Curr Opin Neurol. 2001 Oct;14(5):567-73. doi: 10.1097/00019052-200110000-00004.

Abstract

Limb-girdle muscular dystrophy is a class of disorders encompassing many forms of this disease. Variation exists between the inheritance patterns, genes responsible, course of disease and symptoms, with the cohesive factor among these disorders being the predominance of proximal muscle weakness. Here we review each form of limb-girdle muscular dystrophy with attention to molecular genetics, clinical features, inheritance, and diagnostic issues pertaining to each primary genetic cause.

Publication types

  • Review

MeSH terms

  • Calpain / genetics*
  • Cytoskeletal Proteins / genetics*
  • Humans
  • Membrane Glycoproteins / genetics*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology*
  • Sarcoglycans

Substances

  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans
  • Calpain