ArticleThe Clinical biochemist. Reviews2011
Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.
Article in The Clinical biochemist. Reviews, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 43 citations in OpenAlex.
- Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.Molecular cytogenetics · 2025Article
- The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy.Neurology and therapy · 2024Article
- Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2023Review
- CRISPR/Cas correction of muscular dystrophies.Experimental cell research · 2021Article
- The Efficacy of Naïve versus Modified Mesenchymal Stem Cells in Improving Muscle Function in Duchenne Muscular Dystrophy: A Systematic Review.Biomedicines · 2021Review
- Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.Molecular genetics & genomic medicine · 2021Article
- Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.The application of clinical genetics · 2021Article
- The frontiers of sequencing in undiagnosed neurodevelopmental diseases.Current opinion in genetics & development · 2020Review
- The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.Molecular diagnosis & therapy · 2020Review
- Effect of Ataluren on dystrophin mutations.Journal of cellular and molecular medicine · 2020Article
- Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.Journal of comparative effectiveness research · 2020Article
- CUGC for Duchenne muscular dystrophy (DMD).European journal of human genetics : EJHG · 2018Article
- Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.PloS one · 2018Article
- Rules of tissue packing involving different cell types: human muscle organization.Scientific reports · 2017Article
- 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.PloS one · 2014Observational
- Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.Journal of Korean medical science · 2012Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne muscular dystrophy (DMD) is the commonest and best-known of the muscular dystrophies. Being an X-linked disorder, it affects mainly boys. The disease gene was identified in 1987, with the majority of mutations demonstrated to be large-scale deletions. Current best practice molecular diagnosis includes multiplex ligation-dependent probe amplification (MLPA) followed by direct sequencing of all exons at the genomic level, or from cDNA, in order to detect point and other small mutations. The difference between DMD and the allelic Becker muscular dystrophy (BMD) is whether the precise mutation in the gene is a null mutation or results in a modified still partially functional protein. Over the last few years, significant progress has been made in moving experimental therapies into clinical trials, with one of the most promising possible therapies being anti-sense oligonucleotide induced exon-skipping, which converts DMD to BMD. In order to maximise the benefit from future therapies, it will be necessary to start administering the therapies as early as possible in the life of the affected boys, before significant muscle loss occurs. This will require early diagnosis, which evidence suggests is best achieved through population screening. Population screening also allows the avoidance of multiple affected boys in families with no previous family history.
Identifiers
21912442PMC3157948W2116043246What 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.