Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. A 5-year-old boy had a very...

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Autors principals: Diniz, Gulden, Tosun Yildirim, Hulya, Gokben, Sarenur, Serdaroglu, Gul, Hazan, Filiz, Yararbas, Kanay, Tukun, Ajlan
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4090428/
https://ncbi.nlm.nih.gov/pubmed/25050186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/248561
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