ArticleMolecular medicine reports2019
Clinical and genetic characteristics of female dystrophinopathy carriers.
Article in Molecular medicine reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- A Decade of Progress in Gene Targeted Therapeutic Strategies in Duchenne Muscular Dystrophy: A Systematic Review.Frontiers in bioengineering and biotechnology · 2022Pooled it
- Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.World journal of clinical pediatrics · 2026Article
- Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA.Frontiers in genetics · 2026Article
- Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing.Journal of human genetics · 2025Review
- Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.Italian journal of pediatrics · 2025Article
- 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
- Combining PCR to detect junction fragments and deleted exons in the prenatal diagnosis of BMD can effectively identify maternal cell contamination.Frontiers in medicine · 2025Article
- Cardiac involvement in female elite athletes with carrier status of Duchenne muscular dystrophy.Frontiers in cardiovascular medicine · 2025Review
- Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.Biomedicines · 2024Article
- Prenatal risk assessment of Xp21.1 duplication involving theLife science alliance · 2024Article
- Review
- Exertion induced rhabdomyolysis in both triceps muscles in a 36-year old woman: A case report.Radiology case reports · 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
- Whole-Genome Sequencing Identified New Structural Variations in theInternational journal of molecular sciences · 2023Article
- Article
- 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
- Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.International journal of neonatal screening · 2022Article
- Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- 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
- miRNome profiling in Duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers.Bioscience reports · 2021Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The present study aimed to determine the genetic status of manifesting carriers (MCs) of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and asymptomatic carriers with a family history of DMD/BMD, and identify potential simple and reliable methods for screening dystrophinopathy carriers. Clinical data from probable carriers and MCs were collected and analyzed. MCs underwent multiplex ligation‑dependent probe amplification (MLPA) for dystrophin gene exons combined with muscle disease panel test based on a next‑generation sequencing (NGS) platform. In addition, the status of probable carriers was determined by MLPA or Sanger sequencing, according to the mutations of probands. A total of 154 female were enrolled, among which 78 cases were found to be carriers, including 4 MCs and 74 asymptomatic female carriers. The 4 MCs exhibited duplication mutations. Among the 74 asymptomatic carriers, 41.89% harbored deletion mutations, including 2 cases with suspected germline mosaicism and no mutation in the dystrophin gene, while 44.59% harbored point mutations in exons and only 10 cases (13.51%) carried duplication mutations. The area under the receiver operating characteristic (ROC) curve of creatine kinase (CK) was 0.822, with a sensitivity of 65.38% and specificity of 92.1%. In addition, DMD was positively correlated with the CK, alanine transaminase and aspartate transaminase levels of the carriers. MLPA for exons of the dystrophin gene, along with NGS and Sanger sequencing, was effective for the diagnosis of MCs and for determining the status of probable carriers. The ROC curve analysis also demonstrated that CK level was an excellent predictor for distinguishing DMD/BMD carriers.
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