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Mutation screening in Chinese hypokalemic periodic paralysis patients

โœ Scribed by Weiqing Wang; Lei Jiang; Lei Ye; Na Zhu; Tingwei Su; Liqing Guan; Xiaoying Li; Guang Ning


Book ID
116987782
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
215 KB
Volume
87
Category
Article
ISSN
1096-7192

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Progressive muscle atrophy with hypokale
โœ Thomas Meyer; Karin Jurkat-Rott; Angela Huebner; Frank Lehmann-Horn; Peter Linke ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 304 KB

## Abstract A family with hypokalemic periodic paralysis (HypoPP) and motor neuron degeneration is reported. In conjunction with HypoPP, the index patient developed progressive muscle atrophy. The calcium channel gene __CACNA1S__ showed a mutation encoding p.R528H, which has been related previously