Muscular dystrophies (MDs) are broad group of muscle illness. Duchenne muscular dystrophy (DMD) and allelic Becker muscular dystrophy (BMD) are the most common forms of MDs, together termed as dystrophinopathy. A margin line between DMD and BMD is only justified by the presence of dystrophin protein along with muscle strength. Here, we report a first case of large deletion with BMD phenotype of an 11-year-old Gujarati boy. This inimitable case has been reported for its uniqueness and to attest the magnitude of molecular screening for diagnosis as well as hint for development of new therapeutics.
Key words: Becker muscular dystrophy, dystrophin gene, exon, deletion
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