- The 219th ENMC (European Neuromuscular Centre) workshop took place in Heemskerk, The Netherlands, on the weekend of 29 April–1 May, 2016, and focused on titinopathies and the establishment of an international database of TTN variants and mutations with associated phenotypes. This ENMC workshop involved 16 clinicians and scientists from 6 countries as well as 2 patient and family representatives ( http://www.enmc.org/workshops/introduction/ ). In this report, the state of the art and future directions related to the topics discussed during the meeting are summarized.
- 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).
- 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.
- 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.