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Autor:
Emmanuelle Plassart, Jocelyne Reboul, Claire-Sophie Rime, Dominique Recan, Philippe Millasseau, Bruno Eymard, Jean Pelletier, Charles Thomas, Françoise Chapon, Claude Desnuelle, Christian Confavreux, Bernadette Bady, Jean-Jacques Martin, Gilbert Lenoir, Georges Serratrice, Michel Fardeau, Bertrand Fontaine
Publikováno v:
European journal of human genetics : EJHG. 2(2)
Hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and PC with myotonia permanens are closely related muscle disorders of genetic origin due to allelic mutations in the muscle sodium channel gene, SCN4A. Seven families of French o