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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

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Title: Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.
Authors: Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Baranello G; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK., Saade D; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., D'Souza P; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Patel R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Michael E; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Nationwide Children's Hospital, Center for Gene Therapy, Columbus, Ohio, USA., Haugland SJ; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., McAnally M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Hamid OA; Department of Pediatrics, Nemours Children's Health, Orlando, Florida, USA., Chao K; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Macnamara EF; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Sarkozy A; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK., Mueller J; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK., Moore SA; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Tifft CJ; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK.; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK., Oldfors A; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2026 May 14. Date of Electronic Publication: 2026 May 14.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
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  Data: Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.
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  Data: <searchLink fieldCode="AU" term="%22Orbach+R%22">Orbach R</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Hedberg-Oldfors+C%22">Hedberg-Oldfors C</searchLink>; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Baranello+G%22">Baranello G</searchLink>; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK.<br /><searchLink fieldCode="AU" term="%22Saade+D%22">Saade D</searchLink>; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22D'Souza+P%22">D'Souza P</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Patel+R%22">Patel R</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Michael+E%22">Michael E</searchLink>; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Foley+AR%22">Foley AR</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Bharucha-Goebel+D%22">Bharucha-Goebel D</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Nationwide Children's Hospital, Center for Gene Therapy, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Haugland+SJ%22">Haugland SJ</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22McAnally+M%22">McAnally M</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Hamid+OA%22">Hamid OA</searchLink>; Department of Pediatrics, Nemours Children's Health, Orlando, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Chao+K%22">Chao K</searchLink>; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Macnamara+EF%22">Macnamara EF</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Sarkozy+A%22">Sarkozy A</searchLink>; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Mueller+J%22">Mueller J</searchLink>; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Moore+SA%22">Moore SA</searchLink>; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Finkel+RS%22">Finkel RS</searchLink>; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Tifft+CJ%22">Tifft CJ</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Muntoni+F%22">Muntoni F</searchLink>; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK.; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Oldfors+A%22">Oldfors A</searchLink>; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
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