ArticleEuropean journal of human genetics : EJHG2013
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01817946 (Myotubular Myopathy Genetic Testing Study), which is not on this map. Cited by 19 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.
Myotubular Myopathy Genetic Testing Study
Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.JCI insight · 2026Article
- Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis.International journal of women's health · 2026Article
- Article
- X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy.Journal of pediatric genetics · 2023Article
- Novel Splicing Mutation inInternational journal of molecular sciences · 2022Article
- Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.Journal of neuromuscular diseases · 2022Article
- Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.Neurology · 2021Article
- A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels.Neuromuscular disorders : NMD · 2020Article
- Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.Archives of disease in childhood · 2020Article
- Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.Molecular genetics & genomic medicine · 2018Article
- A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.Muscle & nerve · 2018Article
- Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.International journal of genomics · 2017Article
- New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Journal of human genetics · 2016Article
- Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Journal of neurology · 2015Article
- Article
- X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.Skeletal muscle · 2015Article
- 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
- Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Neuromuscular disorders : NMDArticle
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Authors and funding
11 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin - a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulator of intermediate filaments. We report the development of a locus-specific database for MTM1 using the Leiden Open Variation database software (http://www.lovd.nl/MTM1), with data collated for 474 mutations identified in 472 patients (by June 2012). Among the entries are a total of 25 new mutations, including a large deletion encompassing introns 2-15. During database implementation it was noticed that no large duplications had been reported. We tested a group of eight uncharacterized CNM patients for this specific type of mutation, by multiple ligation-dependent probe amplification (MLPA) analysis. A large duplication spanning exons 1-5 was identified in a boy with a mild phenotype, with results pointing toward possible somatic mosaicism. Further characterization revealed that this duplication causes an in-frame deletion at the mRNA level (r.343_444del). Results obtained with a next generation sequencing approach suggested that the duplication extends into the neighboring MAMLD1 gene and subsequent cDNA analysis detected the presence of a MTM1/MAMLD1 fusion transcript. A complex rearrangement involving the duplication of exon 10 has since been reported, with detection also enabled by MLPA analysis. It is thus conceivable that large duplications in MTM1 may account for a number of CNM cases that have remained genetically unresolved.
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