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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.
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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  Data: Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
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  Data: <searchLink fieldCode="AU" term="%22Folland+C%22">Folland C</searchLink>; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Johnsen+R%22">Johnsen R</searchLink>; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Botero+Gomez+A%22">Botero Gomez A</searchLink>; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Trajanoski+D%22">Trajanoski D</searchLink>; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Davis+MR%22">Davis MR</searchLink>; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Moore+U%22">Moore U</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Barresi+R%22">Barresi R</searchLink>; IRCCS San Camillo Hospital, Venice, Italy.<br /><searchLink fieldCode="AU" term="%22Guglieri+M%22">Guglieri M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hayhurst+H%22">Hayhurst H</searchLink>; Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Schaefer+AM%22">Schaefer AM</searchLink>; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Laing+NG%22">Laing NG</searchLink>; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Lamont+PJ%22">Lamont PJ</searchLink>; Neurogenetic Unit, Royal Perth Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
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  Data: <searchLink fieldCode="JN" term="%227609829%22">Neuropathology and applied neurobiology</searchLink> [Neuropathol Appl Neurobiol] 2022 Dec; Vol. 48 (7), pp. e12846. <i>Date of Electronic Publication: </i>2022 Aug 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Scientific+Publications%22">Blackwell Scientific Publications </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>7609829 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1365-2990 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203051846%22">03051846 </searchLink><i>NLM ISO Abbreviation: </i>Neuropathol Appl Neurobiol <i>Subsets: </i>MEDLINE
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              Text: 2022 Dec
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