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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

G Diniz

G Diniz

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Diniz, G
, 
H Tekgul

H Tekgul

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Tekgul, H
, 
F Hazan

F Hazan

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Hazan, F
, 
K Yararbas

K Yararbas

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Yararbas, K
 e 
A Tukun

A Tukun

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Tukun, A
  
09 lug 2016
Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene's Cover Image
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Categoria dell'articolo: Case Report
Pubblicato online: 09 lug 2016
Pagine: 71 - 76
DOI: https://doi.org/10.1515/bjmg-2015-0088
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© 2016 Walter de Gruyter GmbH, Berlin/Boston
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicina, Scienze medicali di base, Scienze medicali di base, altro
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