Congenital myotonic dystrophy. Changes in muscle pathology with ageing |
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| Authors: | Y Tanabe I Nonaka |
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| Affiliation: | 1. Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria;2. Division of Medical Genetics, Department of Specialized Medicine, McGill University Hospital Centre, Montreal, QC, Canada;3. Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany;4. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany;5. CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada;6. Department for Paediatric and Adolescent Medicine, Schwabing Hospital, Technische Universität München, Munich, Germany;7. Department of Neurosciences, Université de Montréal, Montreal, QC, Canada;8. Department of Pediatrics, Université de Montréal, Montreal, QC, Canada;9. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany;10. Department of Pediatrics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany;11. Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany;12. Kreiskliniken Reutlingen, Klinik für Kinder- und Jugendmedizin, Klinikum am Steinenberg, Reutlingen, Germany;13. Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Munich, Germany;14. Institute of Human Genetics, Technische Universität München, München, Germany;15. Kinderklinik, Stauferklinik, Schwäbisch Gmünd, Germany;16. CHU Sainte-Justine, Montreal, QC, Canada;17. Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal;18. Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Medical Military City, Military City, Saudi Arabia;19. Division of Medical Genetics, Department of Pediatrics, Prince Sultan Medical Military City, Military City, Saudi Arabia;20. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia;21. Centogene AG, Rostock, Germany;22. Department of Biosciences, University of Salzburg, Salzburg, Austria;23. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany;24. Department of Pathology, CHU Sainte-Justine, Université de Montréal, Montreal, QCCanada;25. School of Rehabilitation, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada;1. The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom;2. Department of Musculoskeletal Histopathology and the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital NHS Trust, Oswestry, SY10 7AG, United Kingdom;3. Department of Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance NHS Group, Stott Lane, Salford M6 8HD, United Kingdom;4. The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom;5. The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health 30 Guildford Street, London, WC1N 1EH, United Kingdom;6. Atkinson-Morley Neuromuscular Centre, Department of Neurology, St George’s University Hospitals NHS Foundation Trust, London, SW17 0QT, United Kingdom;7. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom;8. Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom |
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| Abstract: | Undifferentiated type 2C fibers and satellite cells were increased in number in younger patients with congenital myotonic dystrophy (CMD) indicating immaturity in muscle fiber growth. The changes found in a 38-year-old man with CMD were identical to those described in late onset myotonic dystrophy. Type 1 fibers were found to become predominant with age. This suggests that in this disorder fiber type transformation progresses with age, presumably due to abnormal neural influences or aberrant sarcolemmal responses. |
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