2011
DOI: 10.5692/clinicalneurol.51.120
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A case of muscle sodium channelopathy with markedly high value of serum creatine kinase and mild eyelid myotonia

Abstract: We report on a Japanese 13-year-old male without a family history of muscle disease admitted to our hospital due to an elevated serum creatine kinase. From the age of 3 he was complaining of muscle stiffness during and after exercise. At the age of 7 he experienced muscle stiffness and weakness during long-distance running, which would continue till the next day, disappearing only after resting for a day. Upon examination, we noted that repeated eyelid contractions induced myotonia that increased in the cold. … Show more

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