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Abstract
Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disease of children. It is caused by deficiency of the dystrophin protein, located at the subsarcolemmal surface of the muscle fiber and necessary for maintaining the integrity of both skeletal and smooth muscles. Dystrophin protein is encoded by dystrophin gene which is localized to the short arm of the X chromosome, position 21.1q. A mutation in the dystrophin gene results in this disorder. Deletions account for 65% of rearrangements in the dystrophin gene . The aim of this work is to analyze three common deletions in a group of Egyptian DMD patients, namely exons 48, 49 and 51. A genotype/phenotype correlation is drawn in an attempt to through more light upon the nature of the disease and its prognosis. The 3 exons lie within the distal hotspot region (exon 44-55) of the dystrophin gene