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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2014/248561
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items