The ENMC consortium on Emery-Dreifuss Muscular Dystrophy (EDMD) held its 7th meeting in Naarden during the weekend of September 1315, 2002. It was attended by 23 participants from six countries, which included France, Germany, Italy, the Netherlands, Poland and the United Kingdom. This workshop was sponsored by the European Communities and represented the third meeting of the Myo- Cluster project EUROMEN (EUROpean Muscle Envelope Nucleopathies). This meeting focused on three main areas: (1) new clinical insights in laminopathies and emerinopathies: whereas mutations in the emerin gene (EMD) give rise to one phenotype, the X-linked form of EDMD, up to six phenotypes are associated with mutations in the lamin A/C gene (LMNA). The clinical spectrum of these disorders was discussed with a special emphasis on the tissue-specificity of the various laminopathies and their possible overlaps; a special emphasize was made on the cardiac diseases with the aim to give recommendations for cardiac management of these disorders; (2) the genetic spectrum of these disorders including the current status of the mutation databases of EMD and LMNA genes; and (3) the fundamental aspects of these diseases with the analysis of the cellular consequences of mutations in EMD and LMNA genes.
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.
Lattanzi G;
2003
Abstract
The ENMC consortium on Emery-Dreifuss Muscular Dystrophy (EDMD) held its 7th meeting in Naarden during the weekend of September 1315, 2002. It was attended by 23 participants from six countries, which included France, Germany, Italy, the Netherlands, Poland and the United Kingdom. This workshop was sponsored by the European Communities and represented the third meeting of the Myo- Cluster project EUROMEN (EUROpean Muscle Envelope Nucleopathies). This meeting focused on three main areas: (1) new clinical insights in laminopathies and emerinopathies: whereas mutations in the emerin gene (EMD) give rise to one phenotype, the X-linked form of EDMD, up to six phenotypes are associated with mutations in the lamin A/C gene (LMNA). The clinical spectrum of these disorders was discussed with a special emphasis on the tissue-specificity of the various laminopathies and their possible overlaps; a special emphasize was made on the cardiac diseases with the aim to give recommendations for cardiac management of these disorders; (2) the genetic spectrum of these disorders including the current status of the mutation databases of EMD and LMNA genes; and (3) the fundamental aspects of these diseases with the analysis of the cellular consequences of mutations in EMD and LMNA genes.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
