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Peter Van den Bergh, MD, PhD
Cliniques Universitaires Saint-Luc UCL, avenue Hippocrate 10 B-1200 Brussels Belgium

Jean-Louis Thonnard, PhD; Christine Detrembleur, PhD; Jean-Marie Brucher, MD, PhD
Brussels

Arch Neurol. 1995;52(11):1045-1046.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

In their article titled "Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases," Rüde^l et al1 review how molecular biology has shown that paramyotonia congenita and hyperkalemic periodic paralysis are caused by point mutations in the gene, encoding the subunit of the adult human skeletal muscle sodium channel (SCN4A), and how it has led to the recognition of a third type of muscle sodium channel disease, sodium channel myotonia.¹ Sodium channel myotonia has recently been proposed as a variant of paramyotonia congenita.² In paramyotonia congenita, myotonia is aggravated by repeated muscle contraction (paradoxical myotonia); additionally, exposure to cold leads to increased myotonia, followed by episodic muscle weakness. In sodium channel myotonia, myotonic stiffness is worsened or induced by cold or exercise, but is not followed by muscle weakness. Lerche et al² described three families with sodium channel myotonia associated with three mutations at the glycine . . . [Full Text PDF of this Article]

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