An introduction to myotubular or centronuclear myopathy

Congenital myopathies are a group of conditions that affect the proximal – shoulder, upper arm, pelvic and thigh – muscles causing muscle weakness and wasting. Myotubular, or centronuclear myopathy, falls within this group. There are three main types of myotubular myopathy, each defined by the pattern of inheritance seen. Each of these is very rare.

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