A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

@article{Rojas1991AMM,
  title={A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis},
  author={C. V. Rojas and J. Wang and L. S. Schwartz and E. Hoffman and B. Powell and R. Brown},
  journal={Nature},
  year={1991},
  volume={354},
  pages={387-389}
}
  • C. V. Rojas, J. Wang, +3 authors R. Brown
  • Published 1991
  • Biology, Medicine
  • Nature
  • HYPERKALAEMIC periodic paralysis (HYPP)1 is an autosomal dominant disease that results in episodic electrical inexcitability and paralysis of skeletal muscle. Electrophysiological data indicate that tetrodotoxin-sensitive sodium channels from muscle cells of HYPP-affected individuals show abnormal inactivation2,3. Genetic analysis of nine HYPP families has shown tight linkage between the adult skeletal muscle sodium channel α-subunit gene on chromosome 17q and the disease (lod score, z = 24… CONTINUE READING
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