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


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.

SUBMITTER: Hosseini SM 

PROVIDER: S-EPMC9163476 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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

Hosseini Seyed Mohammad SM   Alizadeh Nosratollah N   Amini Abolfazl A   Mohammadi-Asl Javad J  

Clinical case reports 20220602 6


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. ...[more]

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