Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
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| Title: | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. |
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| Authors: | Folland C; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Johnsen R; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia., Botero Gomez A; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Trajanoski D; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Davis MR; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Moore U; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK., Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK., Barresi R; IRCCS San Camillo Hospital, Venice, Italy., Guglieri M; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK., Hayhurst H; Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Schaefer AM; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Laing NG; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Lamont PJ; Neurogenetic Unit, Royal Perth Hospital, Perth, Western Australia, Australia., Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia. |
| Source: | Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Dec; Vol. 48 (7), pp. e12846. Date of Electronic Publication: 2022 Aug 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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