Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

@article{Pusch1995MutationsID,
  title={Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel},
  author={Michael Pusch and Klaus Steinmeyer and Manuela C. Koch and Thomas J. Jentsch},
  journal={Neuron},
  year={1995},
  volume={15},
  pages={1455-1463}
}

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Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
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