Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.

@article{PlassartSchiess1998FunctionalEO,
  title={Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.},
  author={E. Plassart-Schiess and Lo{\"i}c Lhuillier and Alfred L. George and Bertrand Fontaine and Nacira Tabti},
  journal={The Journal of physiology},
  year={1998},
  volume={507 ( Pt 3)},
  pages={721-7}
}
1. The Ile693Thr mutation of the skeletal muscle Na+ channel alpha-subunit is associated with an unusual phenotype of paramyotonia congenita characterized by cold-induced muscle weakness but no stiffness. This mutation occurs in the S4-S5 linker of domain II, a region that has not been previously implicated in paramyotonia congenita. 2. The Ile693Thr mutation was introduced into the human skeletal muscle Na+ gene for functional expression in human embryonic kidney (HEK) cells. The currents… CONTINUE READING