Limb Girdle Muscular Dystrophy Type 2A (Paperback)

ABSTRACT 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.

General

Imprint:	Lap Lambert Academic Publishing
Country of origin:	United States
Release date:	October 2013
First published:	October 2013
Authors:	Muhammad Jaseem Khan • Muhammad Masoom Yasinzai
Dimensions:	229 x 152 x 4mm (L x W x T)
Format:	Paperback - Trade
Pages:	64
ISBN-13:	978-3-659-47831-4
Categories:	Books > Science & Mathematics > Biology, life sciences > Life sciences: general issues > Genetics (non-medical) > General
LSN:	3-659-47831-8
Barcode:	9783659478314

Is the information for this product incomplete, wrong or inappropriate? Let us know about it.

Does this product have an incorrect or missing image? Send us a new image.

Is this product missing categories? Add more categories.

Review This Product

No reviews yet - be the first to create one!