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Myotubular Myopathy
Background
Myotubular Myopathy: Centronuclear Myopathy
Myotubular Myopathy is a congenital myopathy, one of a group of conditions causing weakness and wasting of the muscles with symptoms usually present at birth. The name 'myopathy' means muscle disorder and comes from the Greek words 'myo' meaning muscle and 'pathy' meaning disease.
Myotubular Myopathy is so called because the affected muscle fibres look like myotubes (muscle cells found only during fetal development when the fetus is between twelve to twenty weeks old). The condition is also known as 'centronuclear myopathy' because the nuclei of affected muscle cells are found in the centre of each cell instead of the periphery or edge of the cells (as occurs in healthy muscle cells).
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