ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

@article{Kubisch1998ClC1CC,
  title={ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.},
  author={Christian Kubisch and Thomas Schmidt-Rose and Bertrand Fontaine and Allan H Bretag and Thomas J Jentsch},
  journal={Human molecular genetics},
  year={1998},
  volume={7 11},
  pages={
          1753-60
        }
}
Mutations in the ClC-1 muscle chloride channel cause either recessive or dominant myotonia congenita. Using a systematic screening procedure, we have now identified four novel missense mutations in dominant (V286A, F307S) and recessive myotonia (V236L, G285E), and have analysed the effect of these and other recently described mutations (A313T, I556N) on channel properties in the Xenopus oocyte expression system. Mutations V286A, F307S and A313T displayed a 'classical' dominant phenotype: their… CONTINUE READING

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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

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