Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
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| Title: | Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. |
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| Authors: | Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Bruels CC; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Codina A; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Milisenda JC; Department of Internal Medicine, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain., Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Li C; Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL, 32610, USA., Pijuan J; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Draper I; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA, 02111, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Stafki SA; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA., Pais LS; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Syeda SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Yubero D; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Martorell L; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Pinal-Fernandez I; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lidov HGW; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Mammen AL; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Grau-Junyent JM; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Internal Medicine, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Palau F; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Ghosh PS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Darras BT; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Hoenicka J; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Kang PB; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA. pkang@umn.edu.; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA. pkang@umn.edu., Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain. daniel.natera@sjd.es.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. daniel.natera@sjd.es. |
| Source: | Acta neuropathologica [Acta Neuropathol] 2023 Apr; Vol. 145 (4), pp. 479-496. Date of Electronic Publication: 2023 Feb 17. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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