Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?

Seyed Mohammad Hosseini, Nosratollah Alizadeh,Abolfazl Amini,Javad Mohammadi‐Asl

Clinical Case Reports（2022）

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摘要

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.

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关键词

Duchenne Muscular Dystrophy, genetic diagnosis, molecular diagnosis, next-generation sequencing

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