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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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
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author Hosseini, Seyed Mohammad
Alizadeh, Nosratollah
Amini, Abolfazl
Mohammadi‐Asl, Javad
author_facet Hosseini, Seyed Mohammad
Alizadeh, Nosratollah
Amini, Abolfazl
Mohammadi‐Asl, Javad
author_sort Hosseini, Seyed Mohammad
collection PubMed
description 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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spelling pubmed-91634762022-06-04 Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy? Hosseini, Seyed Mohammad Alizadeh, Nosratollah Amini, Abolfazl Mohammadi‐Asl, Javad Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-06-02 /pmc/articles/PMC9163476/ /pubmed/35662779 http://dx.doi.org/10.1002/ccr3.5916 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Hosseini, Seyed Mohammad
Alizadeh, Nosratollah
Amini, Abolfazl
Mohammadi‐Asl, Javad
Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
title Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
title_full Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
title_fullStr Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
title_full_unstemmed Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
title_short Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
title_sort do ngs‐based techniques represent a first‐line testing in suspected duchenne muscular dystrophy?
topic Case Reports
url 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
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AT aminiabolfazl dongsbasedtechniquesrepresentafirstlinetestinginsuspectedduchennemusculardystrophy
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