This video explains breathing issues in people with muscle weakness.​

This video explains how CNM is an umbrella term.

Information about Myotubular Myopathy











Myotubular Myopathy (MTM) is a congenital myopathy.  In medical terms, “-opathy” at the end of a word means that the term describes a medical disease or condition. “Myo” refers to muscle and thus a “myopathy” is a medical illness involving muscles. This typically results in muscle weakness and muscle fatigue. “Myotubular Myopathy” is a specific type of myopathy where the myopathy (muscle problem) is caused by an abnormality of the protein myotubularin.  This change in the protein is caused by a change in the MTM1 gene.  MTM falls under the umbrella of a several forms of myopathies known collectively as Centronuclear Myopathy.  They are named as such because when making the diagnosis, doctors often remove a small piece of muscle tissue known as a muscle biopsy.  A doctor examines the muscle under a microscope.   The muscle cell of someone with Centronuclear Mypoathy has a muscle cell nucleus that is in the middle of the cell instead of along the edge, where it is typically located.