Workshop report98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE: 26–28th October, 2001, Naarden, The Netherlands
Introduction
The ENMC Consortium on Congenital muscular dystrophy (CMD) held its seventh meeting in Naarden during the weekend of October 26–28, 2001. It was attended by 23 participants from seven countries, which included Denmark, France, Germany, Italy, Turkey, the United Kingdom and the United States. This workshop was sponsored by the European Community and represented the second meeting of the Myocluster project ‘GENRE’ (Genetic Resolution of Congenital Muscular Dystrophy).
This meeting focused on three main areas: (1) CMD syndromes characterized by rigidity of the spine (RSS), with or without distal laxity, including therefore CMD with rigidity of the spine mapped to chromosome 1p (RSMD1) and Ullrich CMD (UCMD); (2) the identification of the genes (two glycosyltransferases) responsible for Muscle Eye Brain Disease (MEB) and for a novel form of CMD characterized by muscle hypertrophy (MDC1C); (3) the presentation of various animal models relevant for CMD or its treatment (myd and dy/dy mice).
Section snippets
Clinical phenotype
The main clinical features of RSMD1 were presented by various participants, including Merlini (Bologna, Italy), Straub (Essen, Germany), Muntoni (London, UK), Quijano-Roy (Garche, France) and Haliloglu (Ankara, Turkey). Mutation analysis was performed by the laboratory of Guicheney (Paris, France) in each case.
The ‘classical’ phenotype is that of a patient born without contractures who may be moderately floppy in the first few months of life and acquire independent ambulation with some delay,
Clinical features
Muntoni, Voit, Quijano-Roy and Romero (Paris, France) presented the clinical features of children with mutations in the fukutin-related protein (FKRP): mutations in this gene were recently shown to underlie a novel form of CMD, named MDC1C [8], [9] and the mutation analysis in all reported cases was performed in London in the laboratory of Muntoni. Characteristic clinical features of this form of CMD are presentation at birth or in the first few weeks of life with hypotonia and weakness but no
Animal model of CMD
Fiszman (Paris, France) gave an overview of the current used therapeutic strategies in the dy/dy mouse. This is an animal model for merosin deficient CMD. At INSERM the team of Fiszman is working on the dy/dy and dy2j/dy2j mouse models using naked laminin α2 chain DNA injection together with electroporation as a tool to reintroduce the defective gene [21].
In order to monitor for the efficiency of this procedure, in addition to look at direct effect on laminin α2 chain expression in muscle, mice
List of participants
F. Muntoni (London, UK)
E. Bertini (Rome, Italy)
C. Bönnemann (Philadelphia, PA, USA)
M. Brockington (London, UK)
S. Brown (London, UK)
K. Bushby (Newcastle upon Tyne, UK)
M. Fiszman (Paris, France)
C. Körner (Göttingen, Germany)
E. Mercuri (London, UK)
L. Merlini (Bologna, Italy)
J. Hewitt (Nottingham, UK)
S. Quijano-Roy (Garches, France)
N. Romero (Paris, France)
S. Squarzoni (Bologna, Italy)
C.A. Sewry (London, UK and Oswestry, UK)
V. Straub (Essen, Germany)
H. Topaloglu (Ankara, Turkey)
G. Haliloglu
Acknowledgements
This workshop was made possible thanks to European Community grant (QLG1-CT-1999-00870) Myocluster-GENRE and to the logistic support of the European Neuromuscular Centre (ENMC) and its main sponsors and associated members: Association Française contre les Myopathies (France), Deutsche Gesellschaft für Muskelkranke (Germany), Telethon Foundation (Italy), Muscular Dystrophy Campaign (UK), Muskelsvindfonden (Denmark), Prinses Beatrix Fonds (Netherlands), Schweizerische Stiftung für die Erforschung
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