Article
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
The Journal of physiology - 15 Sept 2015
Imbrici P, Maggi L, Mangiatordi G F, Dinardo M M, Altamura C, Brugnoni R, Alberga D, Pinter G Lauria, Ricci G, Siciliano G, Micheli R, Annicchiarico G, Lattanzi G, Nicolotti O, Morandi L, Bernasconi P, Desaphy J-F, Mantegazza R, Camerino D Conte
Abstract excerpt
KEY POINTS: Loss-of-function mutations of the skeletal muscle ClC-1 channel cause myotonia congenita with variable phenotypes. Using patch clamp we show that F484L, located in the conducting pore, probably induces mild dominant myotonia by right-shifting the slow gating of ClC-1 channel, without exerting a dominant-negative effect on the wild-type (WT) subunit. Molecular dynamics simulations suggest that F484L...
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