- On September 6–8, 2019, a group of 18 scientists and doctors, along with two patient advocates, from 11 different countries, convened in Hoofddorp, The Netherlands. The aim of the workshop was to plan for a thorough and reliable natural history and outcome measures study of congenital nemaline myopathy, as the basis for future therapy trials. After a welcome from Alexandra Breukel, Carsten Bönnemann and Laurent Servais, Alan Beggs and Carina Wallgren-Pettersson gave an overview of the genetics and clinical spectrum of nemaline myopathy (NM).
- At this ENMC meeting, a multidisciplinary group of 26 participants, including 22 clinical and basic science researchers from 11 different countries and 4 patient advocacy representatives convened to discuss the formation of a formal consortium to improve diagnosis and gene discovery for congenital myopathy (CM) and congenital muscular dystrophy (CMD). The mission statement of the consortium is that “every individual with a congenital muscle disease deserves a genetic diagnosis”. The workshop consisted of three sessions: (1) identifying existing diagnostic and gene discovery infrastructure (databases, analysis platforms, phenotyping tools, cohorts, validation work and registries), (2) exploring current gene discoveries models and tools in the CM/CMD cohort and other disease cohorts, and (3) formalizing next steps towards the establishment of a consortium.
- 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.
- The 199th ENMC workshop on FHL1-related myopathies brought together 20 clinicians and basic scientists from 10 different countries (Australia, Austria, Canada, Egypt, France, Germany, Italy, Japan, United Kingdom, USA) in Naarden from the 7th to the 9th of June 2013. FHL1-related myopathies are a clinically and pathologically heterogeneous group of conditions caused by mutations in the FHL1 gene, which encodes various alternatively spliced isoforms. Topics addressed included clinical, molecular genetic and pathophysiological aspects in patients as well as in animal and cellular models, in particular as they pertain to the formation of cytoplasmic aggregates referred to as reducing bodies (RB) and the analysis of FHL1 binding partners.
- This international ENMC workshop assembled 18 clinicians and scientists from Europe, the United States of America, South America, Japan and Australia to discuss “Rare Structural Congenital Myopathies (CM)”. This workshop can be considered a follow-up to an earlier one , then and now excluding classical CM on which separate workshops have repeatedly been held at ENMC and respective consortia exist such as on nemaline myopathies, centronuclear myopathies, core myopathies, as well as protein aggregate myopathies.