Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, which mostly affects boys. The subject was an 8-year-old child who had typical symptoms of muscle weakness. The NGS may be used as an efficient and cost-effective molecular diagnostic strategy for identifying patients with DMD.
Keywords: Duchenne Muscular Dystrophy; genetic diagnosis; molecular diagnosis; next‐generation sequencing.
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