Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene


Colomer J., Gooding R., Angelicheva D., King R. H. M., Parman Y., Nascimento A., ...More

11th International Congress of the World-Muscle-Society, Brugge, Belgium, 4 - 07 October 2006, vol.16, pp.664-665 identifier

  • Publication Type: Conference Paper / Summary Text
  • Volume: 16
  • Doi Number: 10.1016/j.nmd.2006.05.078
  • City: Brugge
  • Country: Belgium
  • Page Numbers: pp.664-665
  • Istanbul University Affiliated: Yes