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Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

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Title: Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Authors: De Winter J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Ermanoska B; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Monticelli A; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Isapof A; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Armand Trousseau, APHP, Paris, France., Cohen E; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France., Stojkovic T; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Hackman P; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland., Johari M; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Palmio J; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital Tampere, Finland., Waldrop MA; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Wexner Medical Center, Ohio State University, Columbus OH., Meyer AP; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Nicolau S; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University, Columbus, OH., Flanigan KM; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Wexner Medical Center, Ohio State University, Columbus OH., Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom., Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom., Longman C; West Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland., McWilliam CA; West Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, MD., Verma S; Department of Pediatrics and Neurology, Emory University School of Medicine, Atlanta, GA., Laine R; Department of Neurology, Boston Children's Hospital, Boston, MA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, MD., Bonnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, MD., Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL., Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL., Grider T; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA., Shy ME; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium; URPHYM, Department of Medicine, UNamur, Namur, Belgium., Demurger F; Service de Génétique, CHBA, Vannes, France., Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, QLD, Australia., Beecroft S; Pawsey Supercomputing Research Centre, Kensington, WA, Australia., Folland C; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., De Ridder W; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France., Udd B; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital Tampere, Finland., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium. Electronic address: jonathan.baets@uantwerpen.be.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101399. Date of Electronic Publication: 2025 Feb 26.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
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  Data: <searchLink fieldCode="AU" term="%22De+Winter+J%22">De Winter J</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+de+Vondel+L%22">Van de Vondel L</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Ermanoska+B%22">Ermanoska B</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Monticelli+A%22">Monticelli A</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Isapof+A%22">Isapof A</searchLink>; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Armand Trousseau, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cohen+E%22">Cohen E</searchLink>; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hackman+P%22">Hackman P</searchLink>; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Johari+M%22">Johari M</searchLink>; 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Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Flanigan+KM%22">Flanigan KM</searchLink>; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Wexner Medical Center, Ohio State University, Columbus OH.<br /><searchLink fieldCode="AU" term="%22Töpf+A%22">Töpf A</searchLink>; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Diaz-Manera+J%22">Diaz-Manera J</searchLink>; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; 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