Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family

Muscle Nerve. 2000 Jun;23(6):984-8. doi: 10.1002/(sici)1097-4598(200006)23:6<984::aid-mus24>;2-#.


In patients with sarcoglycan (SG) deficiency, a primary defect in any one of the four SG proteins usually leads to reduced expression of the whole SG complex. We report a limb-girdle muscular dystrophy type 2D family (LGMD2D), with variable phenotype, where a mutation in the alpha-SG gene resulted in the partial deficiency of alpha-SG alone. The normal expression of the other three SG proteins suggests that mutations close to the alpha-SG transmembrane domain might be less critical for complex integrity, and that weakness may occur despite its retention.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biopsy
  • Cytoskeletal Proteins / genetics*
  • Dystrophin / analysis
  • Dystrophin / genetics*
  • Family Health*
  • Glycoproteins / analysis
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Mutation
  • Nuclear Family
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Sarcoglycans


  • Cytoskeletal Proteins
  • Dystrophin
  • Glycoproteins
  • Membrane Glycoproteins
  • Sarcoglycans