Article
Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
Pediatric neurology - 1 May 2015
Yoshinaga Harumi, Sakoda Shunichi, Shibata Takashi, Akiyama Tomoyuki, Oka Makio, Yuan Jun-Hui, Takashima Hiroshi, Takahashi Masanori P, Kitamura Tetsuro, Murakami Nagako, Kobayashi Katsuhiro
Abstract excerpt
BACKGROUND: Mutations of the SCN4A gene cause several skeletal muscle channelopathies and overlapping forms of these disorders. However, the variability of the clinical presentation in childhood is confusing and not fully understood among pediatric neurologists. PATIENTS: We found three different mutations (p.V445M, p.I693L, and a novel mutation, p.V1149L) in SCN4A but not in the CLCN1 gene. The patient with...
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