About

The Information Point for Centronuclear and Myotubular Myopathy was established in 20011 to raise awareness of the rare neuromuscular conditions known as centronuclear and myotubular myopathy.

The centronuclear myopathies are a family of rare inherited neuromuscular diseases. The conditions manifest themselves as defects in the cell structure of voluntary muscles, causing low muscle tone and affecting both children and adults at various stages of life.

The term centronuclear myopathy is used to refer to the two autosomal forms of the condition, whilst the term myotubular myopathy is used to describe the x linked form of the condition. Collectively, the three forms are known as the centronuclear myopathies.

To learn more about the conditions, please visit our main website.