ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2012
Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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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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Who cites it
27 citing papers in PubMed, 44 citations in OpenAlex.
- Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.Journal of neurology · 2025Observational
- 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
- Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.Biomedicines · 2024Article
- Rett Syndrome: The Emerging Landscape of Treatment Strategies.CNS drugs · 2024Review
- Parental age effects and Rett syndrome.American journal of medical genetics. Part A · 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
- RhoA/ROCK signalling activated by ARHGEF3 promotes muscle weakness via autophagy in dystrophic mdx mice.Journal of cachexia, sarcopenia and muscle · 2023Article
- Case report: a novel deep intronic splice-altering variant inFrontiers in genetics · 2023Article
- Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.European journal of human genetics : EJHG · 2022Article
- Do NGS-based techniques represent a first-line testing in suspected Duchenne muscular dystrophy?Clinical case reports · 2022Article
- Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.Molecular genetics & genomic medicine · 2021Article
- Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction.Frontiers in genetics · 2021Article
- Review
- Article
- Gene therapies in canine models for Duchenne muscular dystrophy.Human genetics · 2019Review
- Empirical and Computational Comparison of Alternative Therapeutic Exon Skip Repairs for Duchenne Muscular Dystrophy.Biochemistry · 2019Article
- Cardiac MRI biomarkers for Duchenne muscular dystrophy.Biomarkers in medicine · 2018Review
- Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).European journal of human genetics : EJHG · 2018Article
- Clinical Utility Gene Card for: Becker muscular dystrophy.European journal of human genetics : EJHG · 2018Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Duchenne Muscular dystrophy (DMD) is the most frequent muscle disorder in childhood caused by mutations in the Xlinked dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations and about 2% unknown mutations). The clinically milder Becker muscular dystrophy (BMD) is allelic to DMD. About 33% of all patients are due to de novo mutations and germ line mosaicism is frequently observed. While in earlier studies equal mutation rates in males and females had been reported, a breakdown by mutation types can better explain the sex ratio of mutations: Point mutations and duplications arise preferentially during spermatogenesis whereas deletions mostly arise in oogenesis. With current analytical methods, the underlying mutation can be identified in the great majority of cases and be used for carrier detection. However, in families with no mutation carrier available, the genetic model to be used for counselling of relatives can be quite complex.
Indexed as
Identifiers
23620649PMC3631803W1581856275What 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.