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Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene Cover

Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene

Balkan Journal of Medical Genetics
Volume 18 (2015): Issue 2 (December 2015)
By: ,  ,  ,   and    
Open Access
|Jul 2016
Figures & tables

Figures & Tables

Differences in the size and shape of myofibers and marked fibrosis as well as regeneration.
Normal sarcolemmal expression of dystrophin (A) diffuse sarcolemmal absence and/or abnormal sarcoplasmic expressions of SGCA (B), SGCB (C), SGCD (D) and SGCG (E).
The large homozygous deletion of the proband in exons 1 through 6.
DOI: https://doi.org/10.1515/bjmg-2015-0088 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160
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Language: English
Page range: 71 - 76
Published on: Jul 9, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Beta sarcoglycan (SGCB) gene,
Large deletion,
Muscular dystrophy (MD)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2016 G Diniz, H Tekgul, F Hazan, K Yararbas, A Tukun, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 18 (2015): Issue 2 (December 2015)
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