Article
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
Journal of the neurological sciences - 15 Apr 2012
Yoshinaga Harumi, Sakoda Shunichi, Good Jean-Marc, Takahashi Masanori P, Kubota Tomoya, Arikawa-Hirasawa Eri, Nakata Tomohiko, Ohno Kinji, Kitamura Tetsuro, Kobayashi Katsuhiro, Ohtsuka Yoko
Abstract excerpt
Mutations in the pore-forming subunit of the skeletal muscle sodium channel (SCN4A) are responsible for hyperkalemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are classified based on their cardinal symptoms, myotonia and/or paralysis. We report the case of a Japanese boy with a novel mutation of SCN4A, p.I693L, who exhibited severe episodic myotonia from infancy and...
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