Results 101 to 110 of about 3,302 (205)
Plateau potentials contribute to myotonia in mouse models of myotonia congenita. [PDF]
Exp Neurol, 2023 Wang X +4 more
europepmc +1 more source
Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel. [PDF]
, 1996 The gating of ClC-0, the voltage-dependent Cl- channel from Torpedo electric organ, is strongly influenced by Cl- ions in the external solution. Raising external Cl- over the range 1-600 mM favors the fast-gating open state and disfavors the slow-gating ...
Chen, TY, Miller, C
core
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family. [PDF]
Front Genet, 2022 Musa NH +12 more
europepmc +1 more source
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [PDF]
, 2001 The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4.
Abbott, GW +5 more
core
International Journal of Medicine and Health Development, 2008 Background: The muscle diseases are frequently encountered in medical clinics in Nigeria. In many cases however they are not optimally managed. The ion channel diseases, ‘channelopathies’, are a group of muscle disorders that share a lot of clinical ...
Ikenna O Onwuekwe +2 more
doaj
First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features. [PDF]
Appl Clin Genet, 2021 Olave-Rodriguez JA +3 more
europepmc +1 more source