Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle

@article{Lerche1996ParamyotoniaCT,
  title={Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle},
  author={Holger Lerche and Nenad Mitrovi{\'c} and Victor Dubowitz and Frank Lehmann-Horn},
  journal={Annals of Neurology},
  year={1996},
  volume={39}
}
Twitch force and Na+ currents were investigated in a muscle biopsy specimen from a patient with paramyotonia congenita carrying the dominant Arg‐1448‐Pro mutation in the skeletal muscle sodium channel. Cooling of the muscle fibers caused sustained membrane depolarization that resulted in reduced twitch force. Membrane repolarization, produced by a K+ channel opener, partly prevented and antagonized the drop in twitch force. Patch‐clamp recordings on sarcolemmal blebs revealed a distinctly… 

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