ArticleJournal of neurology2011
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
Article in Journal of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
98 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review.Orphanet journal of rare diseases · 2017Pooled it
- Injection site reactions after long-term subcutaneous delivery of drisapersen: a retrospective study.European journal of pediatrics · 2019Trial
- The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.Neurology · 2018Trial
- Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy.Annals of neurology · 2014Trial
- Mutational Spectrum of DMD Gene Variants and Cascade Screening Outcomes in the Central-Eastern Black Sea Region of Türkiye: A Single-Centre Retrospective Study.Molecular biology reports · 2026Article
- Management of Duchenne Muscular Dystrophy in Clinical Practice: A Survey-Based Study in Spain.Neurology and therapy · 2026Article
- Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia.Healthcare (Basel, Switzerland) · 2026Article
- Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.Molecular biology reports · 2026Article
- Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.BMC medical genomics · 2026Article
- A new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions.Disease models & mechanisms · 2026Article
- Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.Journal of neuromuscular diseases · 2025Observational
- Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Article
- Template-assisted sequence knockin rescues skeletal and cardiac muscle function in a deletion model of Duchenne muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.International journal of molecular sciences · 2025Review
- Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update.International journal of molecular sciences · 2025Review
- A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?Journal of genetic counseling · 2025Review
- Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.International journal of molecular sciences · 2024Article
- Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.Journal, genetic engineering & biotechnology · 2024Article
- Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells.Skeletal muscle · 2024Article
- Review
38 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors.
Funding
Abstract
Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation. We revised the main aspects of the natural history of dystrophinopathies to define genotype-phenotype correlations in large patient cohorts with extended follow-up. We also specifically explored subjects carrying nucleotide substitutions in the DMD gene, a comparatively less investigated DMD/BMD subgroup. We studied 320 dystrophinopathic patients (205 DMD and 115 BMD), defining muscular, cardiac, respiratory, and cognitive involvement. We also subdivided patients according to the kind of molecular defect (deletions, duplications, nucleotide substitutions or other microrearrangements) and the mutation sites (proximal/distal to exon 45), studying phenotype-genotype correlations for each group. In DMD, mutation type did not influence clinical evolution; mutations located in distal regions (irrespective of their nature) are more likely to be associated with lower IQ levels (p = 0.005). BMD carrying proximal deletions showed a higher degree of cardiac impairment than BMD with distal deletions (p = 0.0046). In the BMD population, there was a strong correlation between the entity of muscle dystrophin deficiency and clinical course (p = 0.002). An accurate knowledge of natural history may help in the clinical management of patients. Furthermore, several clinical trials are ongoing or are currently planned, some of which aim to target specific DMD mutations: a robust natural history is therefore essential to correctly design these experimental trials.
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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.