|18 April 2011
19 scientists and clinicians from Europe, the United States and Australia convened between the 15th and 17th of April 2011 in Naarden, the Netherlands, for the ENMC workshop on RYR1-related myopathies, namely Central Core Disease (CCD), Multi-minicore Disease (MmD) and other muscle conditions related to changes in this gene.
The skeletal muscle ryanodine receptor (RYR1) gene plays an important role in normal muscle function and over recent years disturbances of this gene have emerged as one of the more common causes of neuromuscular disease. The first part of the workshop focused on the clinical characterization of these conditions and description of typically associated muscle biopsy features. Subsequently, experimental models of disturbed ryanodine receptor function were presented and secondary RYR1 alterations, a recently emerged important mechanism in the development of other neuromuscular disorders, were discussed. The last sessions of the workshop focussed on mechanisms of RYR1-related disorders potentially amenable to treatment and the development of patient registries in preparation for future therapeutic studies.