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.

SUBMITTER: Avila De Salman S 

PROVIDER: S-EPMC2949580 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature