myotonia

n.

肌强直；

Myotonia caused by mutations in the muscle chloride channel gene CLCN1
Membrane changes in cells from myotonia patients.
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker
The skeletal muscle chloride channel in dominant and recessive human myotonia
Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH
Reversal of RNA Missplicing and Myotonia after Muscleblind Overexpression in a Mouse Poly(CUG) Model for Myotonic Dystrophy
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.
Sodium channel mutations in acetazolamide‐responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)