Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care

Eur J Pediatr. 2001 Jul;160(7):452-3. doi: 10.1007/s004310100744.

Abstract

Differential diagnosis of limb-girdle muscular dystrophy, including alpha-sarcoglycanopathy and Duchenne muscular dystrophy, is impossible to acheive on clinical grounds alone; therefore immunohistology, Western blotting and molecular genetic analysis are manadatory for a correct diagnosis. The patient's genotype with a hitherto unknown mutation (Tyr134STOP) in exon 5 adds to the growing spectrum of mutations in the alpha-sarcoglycan gene.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Blotting, Western
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism*
  • Diagnosis, Differential
  • Follow-Up Studies
  • Glycogen Storage Disease Type VII / diagnosis*
  • Glycogen Storage Disease Type VII / genetics*
  • Glycogen Storage Disease Type VII / rehabilitation
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism*
  • Muscular Dystrophy, Duchenne / diagnosis*
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / rehabilitation
  • Mutation*
  • Sarcoglycans

Substances

  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans