Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels

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 inherita...

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Detalles Bibliográficos
Autores principales: Lee, Ting-Ting, Zhang, Xiao-Dong, Chuang, Chao-Chin, Chen, Jing-Jer, Chen, Yi-An, Chen, Shu-Ching, Chen, Tsung-Yu, Tang, Chih-Yung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570542/
https://www.ncbi.nlm.nih.gov/pubmed/23424641
http://dx.doi.org/10.1371/journal.pone.0055930

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