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A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

โœ Scribed by David E. Featherstone; Esther Fujimoto; Peter C. Ruben


Book ID
111118267
Publisher
Cambridge University Press
Year
1998
Tongue
English
Weight
597 KB
Volume
506
Category
Article
ISSN
0022-3751

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๐Ÿ“œ SIMILAR VOLUMES


Paramyotonia congenita: The R1448P Na+ c
โœ Dr H. Lerche; Dr N. Mitrovic; V. Dubowitz; Dr F. Lehmann-Horn ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 866 KB

Twitch force and Na' currents were investigated in a muscle biopsy specimen from a patient with paramyotonia congenita carrying the dominant Arg-1448-Pro mutation in the skeletal muscle sodium channel. Cooling of the muscle fibers caused sustained membrane depolarization that resulted in reduced twi