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

@article{Salman2007AlphaVG,
  title={Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.},
  author={S Avila De Salman and Ana L{\'i}a Taratuto and Gabriele Dekomien and Roque Daniel Carrero-Valenzuela},
  journal={Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology},
  year={2007},
  volume={26 2},
  pages={115-8}
}
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… CONTINUE READING