New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.

Abstract excerpt

Myotonia is rare in newborns, and not well-known. Mutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including sodium channel myotonias. We reported a 4-year-old female who presented with diffuse stiffness, bilateral clubfoot, hip dislocation, facial dysmorphisms and myotonia at birth. At 4 years of age the neurological examination showed characteristic...

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