ReviewThe Journal of molecular diagnostics : JMD2005
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
Review in The Journal of molecular diagnostics : JMD, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
57 citing papers in PubMed, 148 citations in OpenAlex.
- Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia.Healthcare (Basel, Switzerland) · 2026Article
- Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.International journal of molecular sciences · 2025Review
- Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy.EMBO reports · 2024Article
- Prenatal risk assessment of Xp21.1 duplication involving theLife science alliance · 2024Article
- Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis.BMC medical genomics · 2023Article
- Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy.Journal of assisted reproduction and genetics · 2021Article
- Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies.Frontiers in neurology · 2021Article
- Duchenne muscular dystrophy animal models for high-throughput drug discovery and precision medicine.Expert opinion on drug discovery · 2020Review
- Can Wharton jelly derived or adipose tissue derived mesenchymal stem cell can be a treatment option for duchenne muscular dystrophy? Answers as transcriptomic aspect.American journal of stem cells · 2020Article
- The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.PloS one · 2020Article
- Article
- Repurposing Pathogenic Variants ofCurrent genomics · 2019Article
- Functional Mixed-Effects Modeling of Longitudinal Duchenne Muscular Dystrophy Electrical Impedance Myography Data Using State-Space Approach.IEEE transactions on bio-medical engineering · 2019Article
- Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy.Journal of personalized medicine · 2019Review
- 46,XX Testicular Disorders of Sex Development WithFrontiers in genetics · 2019Article
- A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene.Journal of clinical laboratory analysis · 2018Article
- Clinical Utility Gene Card for: Becker muscular dystrophy.European journal of human genetics : EJHG · 2018Article
- CUGC for Duchenne muscular dystrophy (DMD).European journal of human genetics : EJHG · 2018Article
- Collective Statement Regarding Patient Access to Approved Therapies from the Center Directors of Parent Project Muscular Dystrophy's Certified Duchenne Care Centers.PLoS currents · 2018Article
- Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.PloS one · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophies (DMD and BMD). Approximately two-thirds of the affected patients have large deletions or duplications. Using the multiplex polymerase chain reaction and Southern blotting techniques, the detection of these larger mutations is relatively straightforward. Detection of the point mutations in the remaining one-third of the patients has been challenging, mainly due to the large gene size and lack of hotspots or prevalent mutations. However, with the addition of some of the newer molecular screening methods, it is becoming more feasible for clinical laboratories to test for point mutations in the larger genes like dystrophin. Here we review the clinical features, describe the mutation distributions, evaluate current molecular strategies, and illustrate how the genetic findings have impacted the current clinical diagnostics of Duchenne and Becker muscular dystrophies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.