ArticleAmerican journal of human genetics1997
Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD.Muscles (Basel, Switzerland) · 2026Review
- An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.International journal of molecular sciences · 2024Article
- Article
- Whole-Genome Sequencing Identified New Structural Variations in theInternational journal of molecular sciences · 2023Article
- Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype.Molecular genetics & genomic medicine · 2023Article
- A statistical measure for the skewness of X chromosome inactivation for quantitative traits and its application to the MCTFR data.BMC genomic data · 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
- Review
- Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.BioMed research international · 2020Article
- Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Human genetics · 2016Review
- Clinical and Genetic Characterization of Female Dystrophinopathy.Journal of clinical neurology (Seoul, Korea) · 2015Article
- Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells.Cell discovery · 2015Article
- Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Journal of genetic counseling · 2014Review
- Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model.Current genomics · 2013Article
- Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.Orphanet journal of rare diseases · 2012Article
- Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.BMC medical genetics · 2012Article
- 9 year old girl with progressive weakness.Brain pathology (Zurich, Switzerland) · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscle-wasting disorder with an incidence of approximately 1/3,500 male births. Females are also affected, in rare instances. The manifestation of mild to severe symptoms in female carriers of dystrophin mutations is often the result of the preferential inactivation of the X chromosome carrying the normal dystrophin gene. The severity of the symptoms is dependent on the proportion of cells that have inactivated the normal X chromosome. A skewed pattern of X inactivation is also responsible for the clinical manifestation of DMD in females carrying X;autosome translocations, which disrupt the dystrophin gene. DMD may also be observed in females with Turner syndrome (45,X), if the remaining X chromosome carries a DMD mutation. We report here the case of a karyotypically normal female affected with DMD as a result of homozygosity for a deletion of exon 50 of the dystrophin gene. PCR analysis of microsatellite markers spanning the length of the X chromosome demonstrated that homozygosity for the dystrophin gene mutation was caused by maternal isodisomy for the entire X chromosome. This finding demonstrates that uniparental isodisomy of the X chromosome is an additional mechanism for the expression of X-linked recessive disorders. The proband's clinical presentation is consistent with the absence of imprinted genes (i.e., genes that are selectively expressed based on the parent of origin) on the X chromosome.
Indexed as
Identifiers
8981959PMC1712557W1741142241What 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.