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

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 w...

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Veröffentlicht in:Clinical case reports 2022-06, Vol.10 (6), p.e05916-n/a
Hauptverfasser: Hosseini, Seyed Mohammad, Alizadeh, Nosratollah, Amini, Abolfazl, Mohammadi‐Asl, Javad
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Sprache:eng
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Zusammenfassung: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. Duchenne muscular dystrophy (DMD) is one of the most common progressive neuromuscular diseases that caused by a mutation in the dystrophin gene. The subject was an 8‐year‐old child who had typical symptoms of muscle weakness. In this article, we suggest that The NGS may be used as an efficient and cost‐effective molecular diagnostic strategy for identify patients with DMD.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.5916