Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
oleh: Seyed Mohammad Hosseini, Nosratollah Alizadeh, Abolfazl Amini, Javad Mohammadi‐Asl
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-06-01 |
Deskripsi
Abstract 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.