197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies. 26-28 April 2013, Naarden, The Netherlands.

摘要

The 197th ENMC workshop entitled "Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies" took place from the 26th to the 28th of April 2013 in Naarden, The Netherlands. A multidisciplinary group of 19 participants took part in this workshop, including 18 clinical and basic science researchers from six different countries (France, Germany, Italy, Spain, the United Kingdom (UK), and the United States of America), and one patient representative from CMT UK. The principal aim of this workshop was to establish an integrated research network in order to better understand the basic mechanisms responsible for the development of neuromuscular disease in patients harbouring pathogenic OPA1 and MFN2 mutations, which cause autosomal dominant optic atrophy (DOA) and axonal Charcot-Marie-Tooth disease (CMT2A), respectively [1,2].