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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: G Diniz,  H Tekgul,  F Hazan,  K Yararbas and  A Tukun  
Open Access
|Jul 2016

Figures & Tables

Differences in the size and shape of myofibers and marked fibrosis as well as regeneration.
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).
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.
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
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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.

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