X-linked myotubular myopathy (XLMTM) is usually a severe condition caused by mutations in myotubularin gen (MTM1, Xq28). MTM1 a lipid inositoide fosphatase acting in remodeling of membranes. Most of the affected patients present a severe neonatal form with hypotonia, weakness, facial diplegia, difficulties in sucking in addition to other symptoms, dying within the first months. Benign phenotypes have been described, as well as symptomatic carriers. The biopsy features are consistent with the presence of central nuclei in most fibres or “necklace” fibber appearance.

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