Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

@article{Green1998HumanSC,
  title={Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.},
  author={David S. Green and Alfred L. George and Stephen C Cannon},
  journal={The Journal of physiology},
  year={1998},
  volume={510 ( Pt 3)},
  pages={685-94}
}
1. Missense mutations in the alpha-subunit of the human skeletal muscle sodium channel (hSkM1) have been detected in some heritable forms of myotonia. By recording Na+ currents from cells transfected with cDNA encoding either wild-type or mutant hSkM1, we characterized the functional consequences of two myotonia-associated mutations that lie at the cytoplasmic end of the sixth transmembrane segment in domain II (S804F) or domain III (V1293I). 2. Both mutations caused modest, but unequivocal… CONTINUE READING

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