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Skeletal Muscle Sodium Channel Is Affected by an Epileptogenic β1 Subunit Mutation

✍ Scribed by Oscar Moran; Franco Conti

Book ID
115587583
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
62 KB
Volume
282
Category
Article
ISSN
0006-291X

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Recent evidence suggests that the human neuromuscular disorders, hyperkalemic periodic paralysis and paramyotonia congenita, are both caused by genetic defects in the alpha-subunit of the adult skeletal muscle sodium channel, which maps near the growth hormone cluster (GH) on Chromosome (Chr) 17q. I