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Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.

Abstract
Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for alpha-, attenuated for beta- and delta-, and markedly attenuated for gamma-sarcoglycan, thus sarcoglycanopathy was diagnosed, presumably a gamma-sarcoglycanopathy. Unexpectedly, two alpha-SGP-related pathogenic mutations were identified in compound heterozygosity in the SGCA gene: c.229C > T (p.Arg77Cys) in exon 3 and c.850C > T (p.Arg284Cys) in exon 7. These are discussed together with six additional changes detected in SGCB, SGCG and SGCD.
AuthorsS Avila De Salman, A L Taratuto, G Dekomien, R Carrero-Valenzuela
JournalActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology (Acta Myol) Vol. 26 Issue 2 Pg. 115-8 (Oct 2007) ISSN: 1128-2460 [Print] Italy
PMID18421900 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Sarcoglycans
  • Arginine
  • Cysteine
Topics
  • Adolescent
  • Argentina
  • Arginine
  • Cysteine
  • Female
  • Humans
  • Immunohistochemistry
  • Mutation
  • Sarcoglycans (deficiency, genetics)

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