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Genetic etiology and Diagnostic strategies for Duchenne and Becker Muscular Dystrophy: A 2012 update

Genetic etiology and Diagnostic strategies for Duchenne and Becker Muscular Dystrophy: A 2012 update

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Abstract (2. Language): 
Duchenne Muscular Dystrophy (DMD), a type of dystrophinopathy is an X-linked recessive disorder, caused by mutations in the dystrophin gene. Epidemiology and molecular etiology of DMD varies among populations. Since deletions are the most commonly reported mutations in almost all populations, preliminary diagnosis involves detection of deletions. But presence of other mutations, though less common in populations, warrants the need for more comprehensive diagnostic tests. Hence several countries, based on their type of mutational propensity for DMD, have now devised their own strategies and protocols for routine diagnosis of DMD. Most common and convenient technique is multiplex PCR. In India too, development of an integrated strategy consisting of mPCR and several other methods, for the routine diagnosis of DMD is now being considered.
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