Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
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| Title: | Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. |
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| Authors: | Turner J; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Estrella EA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Stafki S; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Syeda SB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA., Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Pais L; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Ganesh VS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Lidov HGW; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Paine SML; Department of Clinical Pathology, Nottingham University Hospitals, Nottingham, UK., Maddison P; Department of Neurology, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Ghosh PS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Pacak CA; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Draper I; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts, USA., Topf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Institute for Translational Neuroscience, University of Minnesota Medical School, Minneapolis, Minnesota, USA. |
| Source: | Muscle & nerve [Muscle Nerve] 2024 Oct; Vol. 70 (4), pp. 843-850. Date of Electronic Publication: 2024 Jul 28. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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