A large cohort of myotonia congenita probands: Novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Raffaella Brugnoni, Dimos Kapetis, Paola Imbrici, Mauro Pessia, Eleonora Canioni, Lara Colleoni, Nicole Kerlero De Rosbo, Lucia Morandi, Paola Cudia, Nasrin Gashemi, Pia Bernasconi, Jean Francois Desaphy, Diana Conte, Renato Mantegazza

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Medicine & Life Sciences