ArticleJournal of medical genetics2023
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees.Genes & genomics · 2025Article
- Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.Annals of clinical and translational neurology · 2025Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Article
- Higher Prevalence of Nonsense PathogenicBrain sciences · 2023Article
- A novel splicing mutation identified in a DMD patient: a case report.Frontiers in pediatrics · 2023Article
- Case report: a novel deep intronic splice-altering variant inFrontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
15 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUp to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing.
methodsRNA was extracted from seven muscle biopsy samples of patients with genetically undiagnosed DMD/BMD after routine genetic diagnosis. RT-PCR of the
resultsWe identified an alteration in the mRNA level in all the patients. We detected three pseudoexons in
conclusionThese findings indicate that mRNA analysis of the
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Registered trials
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