Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels.

@article{Morn1999MyopathicMA,
  title={Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels.},
  author={Oscar Mor{\'a}n and Mario Nizzari and Franco Conti},
  journal={Journal of bioenergetics and biomembranes},
  year={1999},
  volume={31 6},
  pages={591-608}
}
Three groups of mutations of the alpha subunit of the rat skeletal muscle sodium channel (rSkM1), homologous to mutations linked to human muscle hereditary diseases, have been studied by heterologous expression in frog oocytes: S798F, G1299E, G1299V, and G1299A, linked with potassium-aggravated myotonia (PAM); T1306M, R1441C and R1441P, linked with paramyotonia congenita (PC); T698M and M1353V, linked with the hyperkalemic periodic paralysis (HyPP). Wild-type rSkM1 channels (WT) show two gating… CONTINUE READING