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Mechanistic Diversity for Channelopathies of Brain and Skeletal Muscle

✍ Scribed by Cannon, Stephen C.

Book ID
122126907
Publisher
Biophysical Society
Year
2009
Tongue
English
Weight
34 KB
Volume
96
Category
Article
ISSN
0006-3495

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Homozygosity for dominant mutations incr
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✍ Marianne Arzel-hΓ©zode; Damien Sternberg; Nacira Tabti; Savine Vicart; Cyril Goiz πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 606 KB

## Abstract Muscle channelopathies caused by mutations in the __SCN4A__ gene that encodes the muscle sodium channel are transmitted by autosomal‐dominant inheritance. We report herein the first cases of homozygous patients for sodium channel mutations responsible for paramyotonia congenita (I1393T)