Article
Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.
PloS one - 1 Jan 2013
Lee Ting-Ting, Zhang Xiao-Dong, Chuang Chao-Chin, Chen Jing-Jer, Chen Yi-An, Chen Shu-Ching, Chen Tsung-Yu, Tang Chih-Yung
Abstract excerpt
Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion. One hypothesis for myotonia congenita is that the inheritance pattern of the disease is determined by the functional consequence of the mutation on the gating of CLC-1...
Topics
- Animals
- COS Cells
- Cell Membrane
- Chloride Channels
- Chlorocebus aethiops
- Electrophysiological Phenomena
- Endosomes
- Gene Expression Regulation
- HEK293 Cells
- Humans
- Lysosomes
- Mutation
- Myotonia Congenita
- Proteolysis