|1.||Morandi, L: 1 article (09/2015)|
|2.||Siciliano, G: 1 article (09/2015)|
|3.||Bernasconi, P: 1 article (09/2015)|
|4.||Lattanzi, G: 1 article (09/2015)|
|5.||Mangiatordi, G F: 1 article (09/2015)|
|6.||Annicchiarico, G: 1 article (09/2015)|
|7.||Desaphy, J-F: 1 article (09/2015)|
|8.||Imbrici, P: 1 article (09/2015)|
|9.||Mantegazza, R: 1 article (09/2015)|
|10.||Micheli, R: 1 article (09/2015)|
09/15/2015 - "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. "
01/01/2007 - "Qualitatively similar results were observed for ClC-1 channel activity in knockout mice for muscleblind-like 1 (Mbnl1(DeltaE3/DeltaE3)), a second murine model of DM1 that exhibits prominent myotonia and altered Clcn1 splicing (Kanadia et al., 2003). "
12/01/2003 - "Characterization of two new dominant ClC-1 channel mutations associated with myotonia."
02/01/2003 - "Mutations causing dominant myotonia are seen to cluster at the interface of the ClC-1 channel monomers. "
02/01/2003 - "It has been shown that the dominant form of myotonia often results from mutations that affect the so-called slow, or common, gating process of the ClC-1 channel. "
|2.||Myotonia Congenita (Thomsen Disease)
09/15/2015 - "Loss-of-function mutations of the skeletal muscle ClC-1 channel cause myotonia congenita with variable phenotypes. "
09/01/2015 - "Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle. "