Novel insights into the pathomechanisms of skeletal muscle channelopathies.

@article{Burge2012NovelII,
  title={Novel insights into the pathomechanisms of skeletal muscle channelopathies.},
  author={James A Burge and Michael G. Hanna},
  journal={Current neurology and neuroscience reports},
  year={2012},
  volume={12 1},
  pages={62-9}
}
The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterized by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic and hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias. The severity of myotonia ranges from severe neonatal presentation causing respiratory compromise through to mild later-onset disease. It remains unclear why the… CONTINUE READING

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