This study states that Genomic DNA was segregated from fringe blood and paired‐end short‐read entire DMD quality sequencing was proceeded as beforehand described7 to look for variations that could cause the exon skipping. No possibly causative intronic variations were distinguished. Just one sets of peruses (length 150bp) were discovered showing a potential reversal including exons 8–51, yet they were not adequately educational for additional approval. Most undetected DMD variations after routine testing are profound intronic variants,5 which can be recognized by mRNA examination and genomic sequencing approaches, for example, Sanger sequencing and short‐read sequencing. Be that as it may, a few patients stay without a hereditary conclusion after the utilization of these strategies because of the presence of extremely uncommon and more unpredictable primary variations (SVs). As of now, at the time of 9.5 years, he is as yet ready to autonomously walk yet gives evident ligament contractures, toe strolling, and waddling step. Serum creatine kinase was uniquely raised in each test (range 6,510–11,896 IU/L; typical 25–170 IU/L). His muscle MRI assessment indicated an unmistakable muscle association design, the trefoil with single natural product sign at proximal thigh level, which is profoundly explicit for a dystrophinopathy.
