References External links GeneReviews NCBI NIH UW entry on X Linked Myotubular Myopathy or Centronuclear Myopathy MDA Hellas (Muscular Dystrophy Association's website) Myotubular Myopathy from the Muscular Dystrophy Association Myotubular Myopathy Resource Group The Information Point for Centronuclear and Myotubular Myopathy Myotubular Trust http www.myotubulartrust.com Joshua Frase Foundation http www.joshuafrase.org MTM CNM Family Connection

In general, a clinical myopathy and a muscle biopsy showing a centronuclear (nucleus in the center of the muscle cell) appearance would indicate a centronuclear myopathy (CNM).

Many researchers use the term myotubular myopathy (MTM) only for cases when the genetic test has come back positive for abnormalities (genetic mutations) at the MTM1 gene on the X chromosome.