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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.

SUBMITTER: Avila De Salman S 

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

REPOSITORIES: biostudies-literature

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

Avila De Salman S S   Taratuto A L AL   Dekomien G G   Carrero-Valenzuela R R  

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20071001 2

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 dis  ...[more]

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