ArticleAmerican journal of human genetics1995
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
21 citing papers in PubMed, 87 citations in OpenAlex.
- Signs and symptoms of carriers of non-Journal of neuromuscular diseases · 2025Article
- Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.Clinical genetics · 2021Article
- Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.Neurology. Genetics · 2020Article
- Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies.Cellular reprogramming · 2020Article
- AdultNeurology · 2019Article
- Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.Journal of neuropathology and experimental neurology · 2016Review
- Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Molecular syndromology · 2014Article
- Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.PloS one · 2014Article
- A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.JIMD reports · 2014Article
- XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.American journal of human genetics · 2013Article
- Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.BMC medical genetics · 2013Article
- Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.European journal of human genetics : EJHG · 2013Article
- Centronuclear (myotubular) myopathy.Orphanet journal of rare diseases · 2008Review
- Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.American journal of medical genetics. Part A · 2008Review
- Pathological defects in congenital myopathies.Journal of muscle research and cell motility · 2008Review
- A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.American journal of human genetics · 1997Article
- Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.Mammalian genome : official journal of the International Mammalian Genome Society · 1996Article
- Heritability of X chromosome--inactivation phenotype in a large family.American journal of human genetics · 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xq27-q28. The deletion had occurred de novo on the paternal X chromosome. It encompasses the fragile X (FRAXA) and Hunter syndrome (IDS) loci, and the DXS304 and DXS455 markers, in Xq27.3 and proximal Xq28. Other loci from the proximal half of Xq28 (DXS49, DXS256, DXS258, DXS305, and DXS497) were found intact. As the X-linked myotubular myopathy locus (MTM1) was previously mapped to Xq28 by linkage analysis, the present observation suggested that MTM1 is included in the deletion. However, a significant clinical phenotype is unexpected in a female MTM1 carrier. Analysis of inactive X-specific methylation at the androgen receptor gene showed that the deleted X chromosome was active in approximately 80% of leukocytes. Such unbalanced inactivation may account for the moderate MTM1 phenotype and for the mental retardation that later developed in the patient. This observation is discussed in relation to the hypothesis that a locus modulating X inactivation may lie in the region. Comparison of this deletion with that carried by a male patient with a severe Hunter syndrome phenotype but no myotubular myopathy, in light of recent linkage data on recombinant MTM1 families, led to a considerable refinement of the position of the MTM1 locus, to a region of approximately 600 kb, between DXS304 and DXS497.
Indexed as
Identifiers
7726166PMC1801465W1512286805What 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.