- Seventeen clinicians and basic scientists from 7 countries, as well as 4 patient representatives, gathered for the 217th ENMC International Workshop on RYR1-related Myopathies on 29–31 January 2016 in Naarden, The Netherlands. The skeletal muscle ryanodine receptor (RYR1) gene encodes the principal sarcoplasmic reticulum (SR) calcium release channel (RyR1) with a crucial role in excitation–contraction coupling (ECC). Over the last decade, dominant and, more recently, recessive RYR1 mutations have emerged as the most common cause of non-dystrophic inherited neuromuscular disorders, including various congenital myopathies – central core disease (CCD), multi-minicore disease (MmD) and centronuclear myopathy (CNM), congenital fibre type disproportion (CFTD) – the malignant hyperthermia susceptibility (MHS) trait and exertional rhabdomyolysis (ERM).
- Sixteen clinicians and basic scientists from 4 countries convened from the 31st of May to the 2nd of June 2013 in Naarden, The Netherlands, for the 198th ENMC sponsored Workshop on Centronuclear/Myotubular myopathies (CNM/MTM). The workshop was also attended by Anne Lennox and Melanie Spring as representatives of the Myotubular Trust, a European patient support group for patients affected by myotubular (centronuclear) myopathies, and by Hal Landy, Deborah Ramsdell and Matthew Patterson, representatives of 2 industry partners, Valerion and Audentes Therapeutics, with an interest in developing specific therapies for CNM/MTM.
- Twenty clinicians and basic scientists from 10 countries convened for the 182nd ENMC sponsored Workshop on RYR1-related myopathies from the 15th to the 17th of April 2011 in Naarden, The Netherlands. RYR1-related myopathies are a clinically and pathologically heterogeneous group of conditions caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal sarcoplasmic reticulum (SR) Ca2+ release channel (RyR1) with a crucial role in excitation–contraction (E–C) coupling.
- 17 clinicians and basic scientists from 11 centres in France, the UK and the USA convened from the 16th to the 18th of January 2008 in Naarden, The Netherlands, for the 164th ENMC sponsored Workshop on centronuclear/myotubular myopathies (CNM/MTM); in addition, the workshop was also attended by Anne Lennox and Melanie Spring as representative of the Myotubular Trust, a European patient support group for patients affected by myotubular (centronuclear) myopathies.
- Eighteen clinicians and basic scientists from 6 countries convened from the 9th to the 11th of March 2007 in Naarden, The Netherlands for the 150th ENMC sponsored Workshop on Core Myopathies. Members of the ENMC Consortium who attended the 150th ENMC workshop are indicated below: Robert Dirksen, Brigitte Estournet-Mathiaud, Ana Ferreiro, Susan Hamilton, Heinz Jungbluth, Isabelle Marty, Gerhard Meissner, Nicole Monnier, Francesco Muntoni, Ichizo Nishino, Feliciano Protasi, Ros Quinlivan, Caroline Sewry, Volker Straub, Susan Treves, Thomas Voit and Francesco Zorzato.
- Fifteen clinicians and basic scientists from six countries convened on 8th and 9th November 2002 in Naarden, The Netherlands for the 2nd ENMC sponsored Workshop on Multi-minicore Disease (MmD). The 1st ENMC sponsored workshop on MmD in May 2000 had lead to collaborations between the participating groups, resulting over the ensuing 2 years in a rapid advance in the understanding of this autosomal recessively inherited congenital myopathy. The main objective of this workshop was to discuss the recent identification of two genes (RYR1 and SEPN1) involved in at least two of the four MmD phenotypes that had been defined during the previous MmD consortium meeting.