الفهرس 
MuscleOnly 14 pages are availabe for public view
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Abstract
DMD is the most common X-linked disorder in man affecting 1/3,300 live male births.Our understanding ofD/BMD has progressed in remarkable leaps in recent years.The identification of the DMD gene and its product, dystrophin has given us substantial new insights into me basic defect in this disease.The discovery of the responsible gene and protein has been referred to as the ”end of the(beginning”.Let us hope that dystrophin research, coupled with studies to evaluate therapeutic approaches will mark the beginning of the end.When the family history is negative for DMD and BMD (sporadic), the’ Western blot analysis for protein derived from the molecular biopsy specimen can confirm the clinical diagnosis ofD/BMD and can be used to predict the severity of the disease.If the dystrophin assay results is abnormal, DNA analysis should be| performed, preferably by PCR and then by Southern blot if PCR failed to detect a deletion.Detection of a dystrophin gene deletion or duplication will greatly facilitate carrier detection and prenatal diagnosis in the proband’s family.However, failure of the diagnosis ofD/BMD, in the event that no deletion or duplication is found,RFLPs linkage analysis can be attempted for prenatal diagnosis and detection of iCaniers.When muscle biopsy specimen is not available, or if the severity of the^disease is predictable or apparent at presentation, PCR or Southern blot testing of peripheral blood DNA can be informative in more than 60% to 65% of the cases.