- A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies
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Kim DS, Kim EJ, Jung DS, Park KH, Kim IJ, Kwak KY, Kim CM, Ko HY
- KMID: 648803
- J Korean Med Sci.
- 2002 Dec;17(6):856-860.
- doi: 10.3346/jkms.2002.17.6.856
A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia,... -
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