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Akademický článek

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

Autor: Zhiying Xie, Chengyue Sun, Chang Liu, Xujun Chu, Qiang Gang, Meng Yu, Yiming Zheng, Lingchao Meng, Fan Li, Dongliang Xia, Li Wang, Ying Li, Jianwen Deng, He Lv, Zhaoxia Wang, Wei Zhang, Yun Yuan

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

BackgroundThe precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to dete

Externí odkaz: https://doaj.org/article/6b7a5cb39dfa4c6d816f5201dfa7942b

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Akademický článek

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

Autor: Diniz G, Tekgul H, Hazan F, Yararbas K, Tukun A

Publikováno v: Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 71-76 (2015)

Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic dat

Externí odkaz: https://doaj.org/article/7ae3656ef9bf4f9493bab3d6a44b3e7d

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Akademický článek

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Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene

Autor: Francesca Magri, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, Monica Sciacco, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 17; Pages: 9817

Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogenous presentations displaying predominantly proximal muscle weakness due to the loss of skeletal muscle fibers. Beta-sarcoglycanopathy (LGMDR4) results from biallelic mole

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9897836160f4312a8852fbdf197ea18f
https://doi.org/10.3390/ijms23179817

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Akademický článek

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Akademický článek

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Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

Autor: Corrado Angelini, Giulio Piluso, Vincenzo Nigro, Marco Savarese, Marina Fanin, Teresa Giugliano

Publikováno v: Neuromuscular Disorders

Highlights • 504 myopathic patients have been screened by an NGS approach. • A patient with a strong suspicion of sarcoglycanopathy, due to WB and immunohistochemical studies, was investigated. • The absence of reads on the sixth exon of the β

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5025622c2101f4cfdb286b1d61dcf23a
http://europepmc.org/articles/PMC4879147

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Different outcome of sarcoglycan missense mutation between human and mouse

Autor: Nathalie Bourg, Chiara Fecchio, Justine Marsolier, Doriana Sandonà, Cécile Patissier, Isabelle Richard, Sara F. Henriques

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2018, 13 (1), pp.e0191274. ⟨10.1371/journal.pone.0191274⟩
PLoS ONE, Vol 13, Iss 1, p e0191274 (2018)
PLoS ONE, 2018, 13 (1), pp.e0191274. ⟨10.1371/journal.pone.0191274⟩

International audience; Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans). Sarcoglycans form a complex, which is an important part

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e870490a93c866048ddaa264a5d63c76
https://doi.org/10.1371/journal.pone.0191274

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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

Autor: K. Yararbas, Filiz Hazan, Ajlan Tükün, Hasan Tekgul, Gulden Diniz

Publikováno v: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 71-76 (2015)

WOS: 000375181600010
PubMed ID: 27785400
Limb-girdle muscular dystrophy type 2E (LG-MD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47c797aef72ef65fefd23a69f9a5c8e0
https://hdl.handle.net/11454/50982

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