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Frontiers in Neurology, 2020
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Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Channels, 2015
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De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure

Neuromuscular Disorders, 2019
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Late onset painful cold-aggravated myotonia: Three families with SCN4A L1436P mutation

Neuromuscular Disorders, 2011
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A SCN4A mutation causing paramyotonia congenita

Neuromuscular Disorders, 2017
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