Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.

@article{Rayan2010SkeletalMC,
  title={Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.},
  author={Dipa L. Raja Rayan and Michael G. Hanna},
  journal={Current opinion in neurology},
  year={2010},
  volume={23 5},
  pages={466-76}
}
PURPOSE OF REVIEW The aim is to review the recent findings in relation to the genetics, pathophysiology, clinical phenotypes, investigation and treatment of the nondystrophic myotonias (NDMs) and periodic paralyses. RECENT FINDINGS The number of pathogenic mutations causing NDMs and periodic paralyses in known genes continues to expand. In addition, a mutation has been identified in the ryanodine receptor gene manifesting as an atypical periodic paralysis phenotype. Another recent study… CONTINUE READING

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