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.
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Authors | S Avila De Salman, A L Taratuto, G Dekomien, R Carrero-Valenzuela |
Journal | Acta 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 |
PMID | 18421900
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Sarcoglycans
- Arginine
- Cysteine
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Topics |
- Adolescent
- Argentina
- Arginine
- Cysteine
- Female
- Humans
- Immunohistochemistry
- Mutation
- Sarcoglycans
(deficiency, genetics)
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