ReviewJournal of medical genetics1995
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
Review in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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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Who cites it
22 citing papers in PubMed, 127 citations in OpenAlex.
- Trial
- Article
- From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies.International journal of molecular sciences · 2020Review
- Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.Archives of disease in childhood · 2020Article
- Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.Molecular genetics & genomic medicine · 2019Article
- Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.Muscle & nerve · 2017Article
- Novel excitation-contraction coupling related genes reveal aspects of muscle weakness beyond atrophy-new hopes for treatment of musculoskeletal diseases.Frontiers in physiology · 2014Review
- Defective autophagy and mTORC1 signaling in myotubularin null mice.Molecular and cellular biology · 2013Article
- Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.Orphanet journal of rare diseases · 2010Review
- T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Centronuclear (myotubular) myopathy.Orphanet journal of rare diseases · 2008Review
- AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.Human molecular genetics · 2008Article
- Autosomal dominant centronuclear myopathy with unique clinical presentations.Journal of Korean medical science · 2007Article
- Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.Neuromuscular disorders : NMD · 2007Article
- Synthesis and function of membrane phosphoinositides in budding yeast, Saccharomyces cerevisiae.Biochimica et biophysica acta · 2007Review
- Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.Progress in molecular and subcellular biology · 2006Review
- The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.Human genetics · 2003Article
- The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.Journal of medical genetics · 1998Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical differences exist between the three forms of myotubular myopathy. They differ regarding age at onset, severity of the disease, and prognosis, and also regarding some of the clinical characteristics. The autosomal dominant form mostly has a later onset and milder course than the X linked form, and the autosomal recessive form is intermediate in both respects. These differences are, however, quantitative rather than qualitative. Muscle biopsy studies of family members are useful in some cases, and immunohistochemical staining of desmin and vimentin may help distinguish between the X linked and autosomal forms. Determining the mode of inheritance and prognosis in individual families, especially those with a single male patient, still poses a problem. Current molecular genetic results indicate that the gene for the X linked form is located in the proximal Xq28 region. Further molecular genetic studies are needed to examine the existence of genetic heterogeneity in myotubular myopathy and to facilitate diagnosis.
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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.