Myotonic dystrophy is a slowly progressing muscle disease marked by muscle wasting and myotonia. Nicolas Charlet-Berguerand and his colleagues have found that the myotonia component of the disease is probably due to missplicing of BIN1 RNA, resulting in malformation of T tubules in skeletal muscle and disruption of the excitation-contraction coupling machinery.
- Charlotte Fugier
- Arnaud F Klein
- Nicolas Charlet-Berguerand
