Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.

@article{Kim2001PhenotypicVO,
  title={Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.},
  author={J Kim and Y S Hahn and Eun Hee Sohn and Yoo Jeoung Lee and Jeong Hyun Yun and Jin Man Kim and Joo Ho Chung},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  year={2001},
  volume={70 5},
  pages={618-23}
}
OBJECTIVES Patients with paralysis periodica paramyotonica exhibit a clinical syndrome with characteristics of both hyperkalaemic periodic paralysis and paramyotonia congenita. In several types of periodic paralysis associated with hyperkalaemia, mutations in the skeletal muscle sodium channel (SCN4A) gene have been previously reported. Phenotypic variations of mutations in SCN4A, however, have not been described yet. The present study aimed to evaluate genetic variations in a family with… CONTINUE READING
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