DNM2

At least 25 mutations in the DNM2 gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are the muscles used for movement. Most of these mutations change single DNA building blocks (nucleotides) in regions of the gene known as exon 8, exon 11, and exon 16. These mutations lead to a change in the structure of dynamin 2. DNM2 gene mutations that cause centronuclear myopathy are described as "gain-of-function" because they appear to enhance the activity of dynamin 2, affecting endocytosis and leading to disorganization of structures similar to microtubules, called transverse tubules (T tubules), which are found within the membrane of muscle fibers. The T tubules are necessary for normal muscle tensing (contractions) and relaxation. As a result of the DNM2 gene mutations, the structure of muscle cells becomes abnormal and they cannot contract and relax normally, leading to the muscle weakness that is characteristic of centronuclear myopathy.

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