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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Detalles Bibliográficos
Autores principales: Hosseini, Seyed Mohammad, Alizadeh, Nosratollah, Amini, Abolfazl, Mohammadi‐Asl, Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9163476/
https://www.ncbi.nlm.nih.gov/pubmed/35662779
http://dx.doi.org/10.1002/ccr3.5916
Descripción
Sumario: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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