Gamma-sarcoglycanopathy

Indian Pediatr. 2003 Nov;40(11):1077-81.

Abstract

The best known muscular dystrophies are X-linked dystrophinopathies. A clinically and genetically heterogeneous group presenting with weakness of the pelvic and shoulder girdles is that of the limb-girdle muscular dystrophies (LGMDs). Sarcoglycanopathies (SGPs) are autosomal recessive LGMDs. We report a rare case of primary gamma-sarcoglycanopathy (SGP) which emphasizes the evolving concept of dystrophinopathy to sarco-glycanopathy.

Publication types

  • Case Reports

MeSH terms

  • Biopsy, Needle
  • Child
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism*
  • Genes, Recessive
  • Humans
  • Immunohistochemistry
  • India
  • Male
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Prognosis
  • Sarcolemma / genetics
  • Sarcolemma / metabolism*

Substances

  • Cytoskeletal Proteins