ArticleHuman genetics1994
Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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.
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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.
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Who cites it
9 citing papers in PubMed, 41 citations in OpenAlex.
- 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
- Human Germline Mutation and the Erratic Evolutionary Clock.PLoS biology · 2016Article
- A perspective on the evolution of germ-cell development and germinal mosaics of deleterious mutations.Genetica · 2015Review
- Genetic mosaics and the germ line lineage.Genes · 2015Review
- Article
- The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Journal of medical genetics · 1997Article
- Germline and somatic mosaicism in a female carrier of Hunter disease.Journal of medical genetics · 1997Article
- Article
- Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions.Human genetics · 1995Article
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 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA)n repeat polymorphisms in and around the deleted region showed the proband's mother to be both a germline mosaic and a somatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.
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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.