Harris, Elizabeth
Topf, Ana
Barresi, Rita
Hudson, Judith
Powell, Helen
Tellez, James
Hicks, Debbie
Porter, Anna
Bertoli, Marta
Evangelista, Teresinha
Marini-Betollo, Chiara
Magnússon, Ólafur
Lek, Monkol
MacArthur, Daniel
Bushby, Kate
Lochmüller, Hanns
Straub, Volker
Funding for this research was provided by:
Medical Research Council UK (98482)
European Union Seventh Framework Programme (305121)
Muscular Dystrophy UK (MC3/1072/3)
National Human Genome Research Institute (U54 HG003067)
Article History
Received: 1 June 2017
Accepted: 22 August 2017
First Online: 6 September 2017
Ethics approval and consent to participate
: Informed consent for research was obtained from all patients undergoing WES under the protocol for Newcastle MRC Centre Biobank for Neuromuscular Diseases (REC reference: 08/H0906/28 + 5). Incidental findings [] were not sought or reported to patients as per the agreed consent for this study. Patients attending the UK LGMD centre did so as part of their standard care.
: The individual identified as patient WES9 featured in Fig.has provided informed consent for publication of their details and images.
: The authors declare that they have no competing interests.
: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.