Presence of emerinopathy in cases of rigid spine syndrome.

  title={Presence of emerinopathy in cases of rigid spine syndrome.},
  author={Shin-ichiro Kubo and Toshifumi Tsukahara and Masakazu Takemitsu and Kyung Bong Yoon and Hiroya Utsumi and Ikuya Nonaka and Kiichi Arahata},
  journal={Neuromuscular disorders : NMD},
  volume={8 7},
Rigid spine syndrome (RSS) shows clinical similarities to Emery-Dreifuss muscular dystrophy (EDMD). Differential diagnosis between EDMD and RSS is essential because EDMD is often associated with life-threatening cardiomyopathy that can be cured by an implantation of a cardiac pacemaker. To determine if any of the patients with RSS had mutations of the emerin gene (responsible gene for X-linked EDMD or emerinopathy), we screened the patients for mutations. We found seven patients with a clinical… CONTINUE READING