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1994•European Journal of Human GeneticsRequires access

Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations

Emmanuelle Plassart, J Reboul, Claire-Sophie Rime, Dominique Récan, Philippe Millasseau, B. Eymard, Jean Pelletier, C. Thomas, Françoise Chapon, Claude Desnuelle, Christian Confavreux, B Bady, Jean-Jacques Martin, Gilbert Lenoir, G Serratrice, Michel Fardeau, Bertrand Fontaine

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Key concepts: Myotonia, Genetics, Myotonia congenita, Mutation, Biology, Haplotype, Channelopathy, Genotype

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Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations — Research Paper | ScholarLens