Key result
Two novel exonic deletions in the DMD gene (exons 78-79 and exons 30-38) were identified in two Korean boys with Becker muscular dystrophy.
Case Report (n=2)
The identification of novel DMD mutations requires correlation with muscle biopsy and clinical findings to accurately differentiate between Duchenne and Becker muscular dystrophies.
Novel DMD deletions in Becker MD require biopsy-clinical correlation for accurate subtype differentiation; extends mutation spectrum but leaves validation to larger studies.
JGM and may have near normal lives [2,3].The differential diagnosis of BMD and DMD in suspected cases is based on their clinical findings, muscle biopsy, and the mutations in DMD.Among these, positive staining for dystrophin in muscle biopsies is an important finding in the differential diagnosis [4,5].However, since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutations in DMD gene identified in the patient.According to the mutation database or previous reports, each DMD mutation is classified as either a DMD-or BMDcausing mutation [6].However, when a novel DMD mutation is identified, the differential diagnosis should be based on the muscle biopsy findings along with other clinical findings.
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Kim et al. (2017) conducted a case report in Becker muscular dystrophy (n=2). Novel DMD gene mutations (exons 78-79 deletion and exons 30-38 deletion) was evaluated on Identification of DMD gene mutations and clinical/histological phenotype. Two novel exonic deletions in the DMD gene (exons 78-79 and exons 30-38) were identified in two Korean boys with Becker muscular dystrophy.
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