ArticleJournal of medical genetics1990
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
Article in Journal of medical genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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.
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Who cites it
8 citing papers in PubMed, 32 citations in OpenAlex.
- Centronuclear (myotubular) myopathy.Orphanet journal of rare diseases · 2008Review
- Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.Journal of medical genetics · 1998Article
- Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.Mammalian genome : official journal of the International Mammalian Genome Society · 1996Article
- The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.Journal of medical genetics · 1995Review
- Genetic linkage heterogeneity in myotubular myopathy.American journal of human genetics · 1995Article
- Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.American journal of human genetics · 1995Article
- X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).Journal of medical genetics · 1994Article
- Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.American journal of human genetics · 1991Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.
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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.