186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

Autor: Daniel Hantaï, Hanns Lochmüller, Amina Chaouch, David Beeson
Rok vydání: 2012
Předmět:
Zdroj: Neuromuscular Disorders. 22:566-576
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2011.12.004
Popis: The ENMC hosted a group of 22 participants including parents, clinicians and scientists involved in the care or research of congenital myasthenic syndromes (CMS) patients. These represented different groups and centres from the United Kingdom, Germany, Spain, France, Bulgaria, Switzerland, and the United States. CMS are rare inherited disorders in which the safety margin of the neuromuscular transmission is compromised [1–4]. Currently, full genetic testing for CMS is only available in 4 major centres (Rochester, Paris, Oxford, Munich) who have collectively diagnosed more than 1000 patients (Table 1). The objectives of the meeting were to provide an update on CMS both in the clinical and non-clinical domains and to promote more collaborative work. Since the last ENMC workshop on CMS in 2004, 4 novel genes have been discovered: DOK7 [5,6], AGRN [7], LAMB2 [8] and GFPT1 [9,10]. Mutations in the DOK7 gene have emerged as a very common cause of CMS with a limb-girdle phenotype, usually refractory to esterase inhibitors. By contrast, mutations in GFPT1 have recently been found in pyridostigmine-responsive limb-girdle myasthenia with tubular aggregates. During the Naarden workshop, a number of key topics were explored, including recent advances in understanding
Databáze: OpenAIRE
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