Identification of a novel heterozygous <i>DYSF</i> variant in a large family with a dominantly‐inherited dysferlinopathy-Reference-Cited by-同舟云学术

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

Published:2022-08-20 Issue:7 Volume:48 Page:
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathology Appl Neurobio

Author:

Folland Chiara¹,Johnsen Russell²,Botero Gomez Adriana³,Trajanoski Daniel³,Davis Mark R.³,Moore Ursula⁴,Straub Volker⁴,Barresi Rita⁵,Guglieri Michela⁴,Hayhurst Hannah⁶,Schaefer Andrew M.⁷,Laing Nigel G.¹,Lamont Philipa J.⁸,Ravenscroft Gianina¹

Affiliation:

1. Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research Perth Western Australia Australia

2. Centre for Molecular Medicine and Innovative Therapeutics Murdoch University Murdoch Western Australia Australia

3. Department of Diagnostic Genomics, Department of Health PathWest Laboratory Medicine, QEII Medical Centre Nedlands Western Australia Australia

4. 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

5. IRCCS San Camillo Hospital Venice Italy

6. Newcastle Upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

7. NHS Highly Specialised Service for Rare Mitochondrial Disorders Newcastle Upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

8. Neurogenetic Unit Royal Perth Hospital Perth Western Australia Australia

Funder

NIHR Newcastle Biomedical Research Centre

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12846