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Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation

โœ Scribed by Tahmoush, Albert J.; Schaller, Kristen L.; Zhang, Ping; Hyslop, Terry; Heiman-Patterson, Terry; Caldwell, John H.


Book ID
125450377
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
641 KB
Volume
4
Category
Article
ISSN
0960-8966

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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