Progression of Symptoms and Differences in the Response of Different Skeletal Muscles to the M1592V Mutation of NaV1.4 that Causes Hyperkalemic Periodic Paralysis

Hyperkalemic periodic paralysis is characterized by myotonic discharges followed by paralysis. Caused by a mutation in the gene encoding for NaV1.4 channel, patients do not experience symptoms during infancy, but the onset starts between 1-10 years of age. The symptoms severity then increases with a...

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Bibliographic Details
Main Author: Khogali, Shiemaa
Language:en
Published: 2012
Subjects:
Online Access:http://hdl.handle.net/10393/23479