ArticleJournal of clinical neurology (Seoul, Korea)2015
Clinical and Genetic Characterization of Female Dystrophinopathy.
Article in Journal of clinical neurology (Seoul, Korea), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02897921 (Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy), which is not on this map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 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
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Genetic and clinical landscape of Duchenne muscular dystrophy in Guatemala: insights from a national study.Frontiers in genetics · 2025Article
- Cardiac involvement in female elite athletes with carrier status of Duchenne muscular dystrophy.Frontiers in cardiovascular medicine · 2025Review
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
- Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy.Current cardiology reviews · 2024Review
- 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
- 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
- Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.Frontiers in neurology · 2021Article
- Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.PloS one · 2021Article
- Advance genome editing technologies in the treatment of human diseases: CRISPR therapy (Review).International journal of molecular medicine · 2020Review
- Connexin-43 reduction prevents muscle defects in a mouse model of manifesting Duchenne muscular dystrophy female carriers.Scientific reports · 2020Article
- Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.BioMed research international · 2020Article
- Clinical and genetic characteristics of female dystrophinopathy carriers.Molecular medicine reports · 2019Article
- Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches.Journal of personalized medicine · 2019Review
- Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan.Internal medicine (Tokyo, Japan) · 2018Article
- The importance of genetic diagnosis for Duchenne muscular dystrophy.Journal of medical genetics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeDuchenne and Becker muscular dystrophies are the most common X-linked recessive muscular dystrophies. Dystrophin gene mutations usually affect men, but reportedly 2.5-7.8% of women are affected and are classified as symptomatic carriers. The aim of this study was to clinically and genetically characterize symptomatic female dystrophinopathy carriers.
methodsThe clinical and genetic data of 11 female dystrophinopathy carriers among 285 patients who underwent multiplex ligation-dependent probe amplification (MLPA) analysis for the dystrophin gene were reviewed. Women with muscle weakness and/or dilated cardiomyopathy were classified as symptomatic carriers, while subjects with high serum creatine kinase (CK) levels and/or minor myopathic signs such as muscle cramps and myalgia were classified as asymptomatic.
resultsTwelve female carriers were identified, but 1 symptomatic carrier who also had Turner syndrome was excluded from the study. Of the 11 included female carriers, 4 were symptomatic and 7 were asymptomatic. The age at symptom onset in the symptomatic female carriers ranged from 15 to 31 years (mean, 30.6 years), and the age at diagnosis for asymptomatic carriers ranged from 4 to 38 years (mean, 24.5 years). Serum CK levels were markedly elevated (mean, 1,301 IU/mL) in three of the four (75%) symptomatic female carriers, and mildly elevated in three of the seven (42%) asymptomatic female carriers. Symptomatic female carriers typically presented with asymmetric bilateral leg weakness as the initial symptom, with aggravated symptoms after labor.
conclusionsFemale dystrophinopathy is not uncommon, and it is an important factor with respect to males with dystrophinopathy who may be born to such patients. Screening with MLPA is useful because it can aid in early diagnosis and appropriate management.
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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.