Author/Authors :
Fardaei Majid نويسنده Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran , GHAFOURI-FARD Soudeh نويسنده Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran , HASHEMI-GORJI Feyzollah نويسنده Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran , MIRYOUNESI Mohammad نويسنده Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Abstract :
Abstract
Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E.
Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion. This result presents a novel underlying genetic mechanism for LGMD type 2E.
