Case report reveals a rare DMD gene duplication in a child with Duchenne muscular dystrophy, suggesting implications for care.
A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
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Assaf et al. (2026) studied this question.
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