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, Lucía Morandi, Paola Cudia, Nasrin Gashemi,

Journal of Human Genetics · 2013 · 53 citations · 35 references

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