ReviewJournal of medical genetics2016
The importance of genetic diagnosis for Duchenne muscular dystrophy.
Review in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 196 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
196 citing papers in PubMed, 5 syntheses or guidelines pooled it, 351 citations in OpenAlex.
- Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis.PloS one · 2026Pooled it
- Efficacy of delandistrogene moxeparvovec on Duchenne muscular dystrophy: a systematic review and meta-analysis.Human genetics · 2025Pooled it
- A Decade of Progress in Gene Targeted Therapeutic Strategies in Duchenne Muscular Dystrophy: A Systematic Review.Frontiers in bioengineering and biotechnology · 2022Pooled it
- The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review.Orphanet journal of rare diseases · 2021Pooled it
- Cardiac Phenotype-Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review.Pediatric cardiology · 2021Pooled it
- Status of Clinical Care of Duchenne Muscular Dystrophy: Global Perspective and Situation in India.Indian journal of pediatrics · 2026Review
- Observational
- Article
- Duchenne muscular dystrophy: from gene to gene-ius therapies.Skeletal muscle · 2026Review
- Novel DMD Frameshift Variant (p.Leu2017Profs*5) in Spectrin-Like Repeat 16 Expands the Mutational Spectrum of DMD.Molecular genetics & genomic medicine · 2026Article
- Cardiac MRI in cardiac dystrophinopathy: recommendations on imaging.Open heart · 2026Review
- RNA Therapeutics for Duchenne Muscular Dystrophy: Exon Skipping, RNA Editing, and Translational Insights from Genome-Edited Microminipig Models.International journal of molecular sciences · 2026Review
- Duchenne Muscular Dystrophy: Contemporary Therapeutic Options and Real-World Challenges in Treatment Selection.Muscles (Basel, Switzerland) · 2026Review
- Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.BMC medical genomics · 2026Article
- Evaluation of protein expression and oxidative stress index in Duchenne muscular dystrophy.Pediatric research · 2026Article
- Generation of an Induced Pluripotent Stem Cell Line from a Duchenne Muscular Dystrophy Patient Carrying the DMD p.Ser429Ter (c.1286C>G) Nonsense Mutation.Bulletin of experimental biology and medicine · 2026Article
- Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.Frontiers in genetics · 2026Article
- Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Real-world experience with gene therapy in Duchenne muscular dystrophy center readiness and patients safety: report from Qatar.Gene therapy · 2026Article
- Brain Alteration Patterns in Children with Duchenne Muscular Dystrophy: A Machine Learning Approach to Magnetic Resonance Imaging.Journal of neuromuscular diseases · 2026Article
136 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD.
Indexed as
Identifiers
What OpenQuestion holds
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.