Article
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.
Neurological research - 1 Mar 2016
Mojbafan Marzieh, Nilipour Yalda, Tonekaboni Seyed Hasan, Tavakkoly-Bazzaz Javad, Zeinali Sirous
Abstract excerpt
OBJECTIVE AND IMPORTANCE: The sarcoglycanopathies (SGPs) are a subgroup of autosomal recessive limb girdle muscular dystrophies. They are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (SGs) genes. Alpha-SGPs are the most frequent form of SGPs. Muscle biopsy studies in patients with SGPs have indicated that loss of one SG subunit leads to instability of whole SG complex. Autozygosity mapping is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.