Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Lemmers, Richard J L F
Butterfield, Russell
van der Vliet, Patrick J
de Bleecker, Jan L
van der Pol, Ludo
Dunn, Diane M
Erasmus, Corrie E
D'Hooghe, Marc
Verhoeven, Kristof
Balog, Judit
Bigot, Anne
van Engelen, Baziel
Statland, Jeffrey
Bugiardini, Enrico
van der Stoep, Nienke
Evangelista, Teresinha
Marini-Bettolo, Chiara
van den Bergh, Peter
Tawil, Rabi
Voermans, Nicol C
Vissing, John
Weiss, Robert B
van der Maarel, Silvère M

Department of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands
Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA
Department of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands
Department of Neurology, University Hospital, 9000 Gent, Belgium
University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands
Department of Neurology, Algemeen Ziekenhuis Sint-Jan, 8000, Brugge, Belgium
Department of Neurology, Algemeen Ziekenhuis Sint-Jan, 8000, Brugge, Belgium
Department of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands
Sorbonne Université, Inserm UMRS974, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France
Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands
University of Kansas Medical Center, Kansas City, KS 66103, USA
National Hospital For Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Department of Clinical Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands
Unité de Morphologie Neuromusculaire, Institut de Myologie, AP-HP, F-75013, Paris, France
The John Walton Muscular Dystrophy Research Centre, Faculty of Medical Sciences, Newcastle upon Tyne, NE1 3BZ, UK
Department of Neurology, Saint-Luc UCL, 1200, Brussels, Belgium
Department of Neurology, University of Rochester Medical Center, NY 14642, Rochester, USA
Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands
Department of Neurology, University of Copenhagen, DK-2100 Copenhagen, Denmark
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
Department of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands

Correspondence to: Silvère M. van der Maarel, PhD Department of Human Genetics Leiden University Medical Center Albinusdreef 2, 2333 ZA Leiden, The Netherlands E-mail: [email protected]

Received May 17, 2023

Received in revised form July 26, 2023

Accepted August 10, 2023

Revised January 16, 2024

This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected]

Brain 147(2):p 414-426, February 2024. | DOI: 10.1093/brain/awad312