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

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...

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Publicat a:Iran J Child Neurol
Autors principals: GHAFOURI-FARD, Soudeh, HASHEMI-GORJI, Feyzollah, FARDAEI, Majid, MIRYOUNESI, Mohammad
Format: Artigo
Idioma:Inglês
Publicat: Shahid Beheshti University of Medical Sciences 2017
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5582362/
https://ncbi.nlm.nih.gov/pubmed/28883879
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