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A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita

โœ Scribed by Takeshi Yamada; Hirofumi Ochi; Hideo Hara; Takeo Yoshimura; Takuro Kobayashi

Book ID
118932299
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
221 KB
Volume
133
Category
Article
ISSN
0022-510X

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๐Ÿ“œ SIMILAR VOLUMES

Paramyotonia congenita: The R1448P Na+ c
Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle
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