title: X-linked myotubular myopathy. 33rd ENMC International Workshop Soest. The Netherlands, 9-11 June 1995.
abstract: The research work presented at this the 2nd Workshop of the International Consortium on X-linked Myotubular Myopathy has clearly shown the benefits to be gained from a multinational research consortium with a common interest in identifying and cloning the MTM1 gene. The clinicians have rapid access to knowledge about the current state of the detailed physical map encompassing the disease gene, which is of particular importance when asked to carry out a linkage-based carrier risk assessment in such families, and the molecular geneticists benefit by having access to a large panel of samples from clinically well-documented XMTM patients, and their families, for the rapid testing of any new potential candidate genes. Strategies for the rapid exchange of information and material between members of the consortium to facilitate the cloning of the MTM gene were generated in the hope that the next Workshop will see the consortium discussing the clinical and histological implications of the mutations found. To this end it was decided to set up a Register, based in Cardiff, of all XMTM patients from whom tissue and DNA samples had been made available to the consortium. A decision was also made to collect samples from the very rare families with possible autosomal MTM for future study.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Health Park, Cardiff, U.K. thomasns@cardiff.ac.uk
authors.forename: N
authors.initials: N
authors.lastname: Thomas
authors.forename: C
authors.initials: C
authors.lastname: Wallgren-Pettersson
mesh_terms: D008040:Genetic Linkage; D006801:Humans; D009135:Muscular Diseases / Q000235:genetics*; D014960:X Chromosome