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Centronuclear Myopathy

Last updated on Monday, January 5 2009 by jdmiles

Muscle biopsy from the quadriceps taken at 3 months of age from a girl with X-linked centronuclear ("myotubular") myopathy due to a mutation in the myotubularin (MTM1) gene and extremely skewed X-inactivation, H&E stain, transverse section. Note marked variability in fibre size, moderate increase in connective tissue and numerous central nuclei. Source: Heinz Jungbluth, Carina Wallgren-Pettersson and Jocelyn Laporte, published in Orphanet Journal of Rare Diseases 2008; 3:26. doi:10.1186/1750-1172-3-26. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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