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Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene.


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.

SUBMITTER: Ghafouri-Fard S 

PROVIDER: S-EPMC5582362 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene.

Ghafouri-Fard Soudeh S   Hashemi-Gorji Feyzollah F   Fardaei Majid M   Miryounesi Mohammad M  

Iranian journal of child neurology 20170101 3


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 SG  ...[more]

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