Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies

Muscle Nerve. 2001 Mar;24(3):421-4. doi: 10.1002/1097-4598(200103)24:3<421::aid-mus1016>3.0.co;2-r.

Abstract

Mutations in the sarcoglycan (SG) genes cause a subset of limb-girdle muscular dystrophies (LGMD). We report a Spanish patient with progressive LGMD exhibiting an almost isolated loss of gamma-SG and a homozygous Delta521-T mutation in the gamma-SG gene. These results suggest that isolated loss of gamma-SG might remain undetected using only the alpha-SG antibody in routine muscle biopsy studies. Both alpha- and gamma-SG antibodies should be used in the diagnostic detection of patients with LGMD.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Blotting, Western
  • Cytoskeletal Proteins / analysis
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism*
  • Female
  • Fluorescent Antibody Technique
  • Genes, Recessive
  • Humans
  • Membrane Glycoproteins / analysis
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism*
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / metabolism*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology
  • Point Mutation
  • Sarcoglycans

Substances

  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans