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Neurogenetics
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FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Authors

  • Magdalena Mroczek Department of Neurology and Neurophysiology, Balgrist University Hospital, Zurich, Switzerland John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Cheryl Longman West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK PubMed articlesGoogle scholar articles
  • Maria Elena Farrugia Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK PubMed articlesGoogle scholar articles
  • Solange Kapetanovic Garcia Unidad de ELA y Neuromuscular, Hospital Universitario de Basurto, Bilbao, Spain PubMed articlesGoogle scholar articles
  • Didem Ardicli Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey Department of Pediatric Neurology, Ministry of Health, Ankara City Hospital, Ankara, Turkey PubMed articlesGoogle scholar articles
  • Haluk Topaloglu Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey Department of Pediatrics, Yeditepe University, İstanbul, Turkey PubMed articlesGoogle scholar articles
  • Aurelio Hernández-Laín Department of Pathology (Neuropathology), Hospital Universitario 12 de Octubre Research Institute (imas12), Madrid, Spain PubMed articlesGoogle scholar articles
  • Diclehan Orhan Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey PubMed articlesGoogle scholar articles
  • Mehmet Alikasifoglu Department of Medical Genetics, Hacettepe University Children’s Hospital, Ankara, Turkey PubMed articlesGoogle scholar articles
  • Jennifer Duff John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Sabine Specht John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Kristen Nowak School of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Western Australia, Nedlands, Western Australia, Australia Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Gianina Ravenscroft Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Katherine Chao Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Zaheer Valivullah Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Sandra Donkervoort Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Dimah Saade Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Carsten Bönnemann Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Volker Straub John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Grace Yoon Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Divison of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Grace Yoon, The Hospital for Sick Children Department of Paediatrics, Toronto, ON M5G 1X8, Canada; grace.yoon{at}utoronto.ca; Professor Volker Straub, John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research, Newcastle University, Newcastle, UK; volker.straub{at}newcastle.ac.uk
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Citation

Mroczek M, Longman C, Farrugia ME, et al
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
Journal of Medical Genetics 2022;59:1069-1074.

Publication history

  • Received November 25, 2021
  • Accepted March 16, 2022
  • First published April 7, 2022.
Online issue publication 
May 11, 2023

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.