118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th workshop of the international consortium on myotubular myopathy)

XLMTM (X-linked myotubular myopathy) is a rare recessive disorder. The MTM1 gene is localized on Xq28 and it encompasses 100 kb at the genomic level, with 15 exons coding for a 603 aa protein named myotubularin. Mutations in myotubularin result in the human disease XLMTM, which is characterized by the persistence of muscle fibres that retain an immature phenotype [1]. MTM1 gene is the founder member of the myotubularin family (14 genes in human) which constitutes a large group within the tyrosine/dual specificity phosphatases super family (PTP/DSP). Members are present in almost all Eucaryotic organisms, including yeasts and plants. Two other members were more recently found mutated in 2 forms of demyelinating Charcot-Marie-Tooth (CMT) neuropathy type 4B1 and 4B2[2]. In the last 4 years, after the past ENMC Consortium on Myotubular myopathy, which was held in 1999, a great number of findings have emerged concerning the function of myotubularin and myotubularin related proteins. Accordingly, the Consortium was extended to many new participants with expertise in biochemistry and cell signalling. The ENMC Consortium on advances in Myotubular Myopathy (MTM) held its 5th Workshop in Naarden, the Netherlands, the weekend from 26 – 28th September 2003. It was attended by 19 active participants from Australia, Finland, France, Germany, Italy, Switzerland, the United Kingdom and the USA.