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Centronuclear Myopathy

Centronuclear Myopathy
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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 (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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