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OverviewABSTRACT Limb girdle muscular dystrophy (LGMD) is a heterogeneous genetically determined group of skeletal muscle disorders. Among the 24 reported subtypes of LGMD, limb- girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene. In Pakistan, consanguineous marriages are common due to social, ethnic and traditional customs which is a leading cause of calpainopathy. In the present study, two families (A, B) showing clinically distinct autosomal recessive limb girdle muscular dystrophy type 2A were evaluated genetically. Any other abnormality was not observed in both families. Technique of homozygosity mapping was used to track the gene responsible for autosomal recessive LGMD2A in both families. In homozygosity mapping with polymorphic microsatellite markers, linkage in family A and B with LGMD2A was established to CAPN3 gene on chromosome 15q15.1-q21.1. Subsequently, sequence analysis of all 24 exons of CAPN3 was performed but no disease causing DNA sequence variant was found in these exons suggesting the presence of mutation in the regulatory sequences or any other genes present in this region. Full Product DetailsAuthor: Muhammad Jaseem Khan , Muhammad Masoom YasinzaiPublisher: LAP Lambert Academic Publishing Imprint: LAP Lambert Academic Publishing Dimensions: Width: 15.20cm , Height: 0.40cm , Length: 22.90cm Weight: 0.104kg ISBN: 9783659478314ISBN 10: 3659478318 Pages: 64 Publication Date: 23 October 2013 Audience: General/trade , General Format: Paperback Publisher's Status: Active Availability: In stock We have confirmation that this item is in stock with the supplier. It will be ordered in for you and dispatched immediately. Table of ContentsReviewsAuthor InformationTab Content 6Author Website:Countries AvailableAll regions |