ArticleEuropean journal of human genetics : EJHG2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers.
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30 citing papers in PubMed, 65 citations in OpenAlex.
- Dystrophinopathy with aPCN reports : psychiatry and clinical neurosciences · 2026Article
- Acute rhabdomyolysis as the presenting symptom in two females with a DMD mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.Journal of neurology · 2025Article
- Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy.Muscle & nerve · 2024Article
- Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Article
- Article
- Diagnosis and management of Becker muscular dystrophy: the French guidelines.Journal of neurology · 2023Review
- Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.International journal of molecular sciences · 2023Article
- Cognitive function in DMD carriers: personal case series and literature review.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
- Identification of Two Novel Variants of thePharmacogenomics and personalized medicine · 2023Article
- X-chromosomal inactivation patterns in women with Fabry disease.Molecular genetics & genomic medicine · 2022Article
- Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy.BMC neurology · 2022Article
- Dystrophin genetic variants and autism.Discover mental health · 2022Article
- Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2021Article
- DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.BMC medical genomics · 2021Article
- A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family.Molecular genetics and genomics : MGG · 2021Article
- Targeting Nrf2 for the treatment of Duchenne Muscular Dystrophy.Redox biology · 2021Review
- Connexin-43 reduction prevents muscle defects in a mouse model of manifesting Duchenne muscular dystrophy female carriers.Scientific reports · 2020Article
- Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy.Frontiers in neurology · 2020Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
23 authors at 15 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical presentation, muscular histological analysis and type of gene mutation, as well as X-chromosome inactivation (XCI) patterns using DNA extracted from peripheral blood or muscle are detailed. The initial symptoms were significant weakness (88%) or exercise intolerance (27%). Clinical severity varied from a Duchenne-like progression to a very mild Becker-like phenotype. Cardiac dysfunction was present in 19% of the cases. Cognitive impairment was worthy of notice, as 27% of the carriers are concerned. The muscular analysis was always contributive, revealing muscular dystrophy (83%), mosaic in immunostaining (81%) and dystrophin abnormalities in western blot analysis (84%). In all, 73% had exonic deletions or duplications and 27% had point mutations. XCI pattern was biased in 62% of the cases. In conclusion, we report the largest series of manifesting DMD carriers at pediatric age and show that exercise intolerance and cognitive impairment may reveal symptomatic DMD carriers. The complete histological and immunohistological study of the muscle is the key of the diagnosis leading to the dystrophin gene analysis. Our study shows also that cognitive impairment in symptomatic DMD carriers is associated with mutations in the distal part of the DMD gene. XCI study does not fully explain the mechanisms as well as the wide spectrum of clinical phenotype, though a clear correlation between the severity of the phenotype and inactivation bias was observed.
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