Electrophysiological Characteristics of Six Mutations in hClC-1 of Korean Patients with Myotonia Congenita

ClC-1 is a member of a large family of voltage-gated chloride channels, abundantly expressed in human skeletal muscle. Mutations in ClC-1 are associated with myotonia congenita (MC) and result in loss of regulation of membrane excitability in skeletal muscle. We studied the electrophysiological char...

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Detalles Bibliográficos
Autores principales: Ha, Kotdaji, Kim, Sung-Young, Hong, Chansik, Myeong, Jongyun, Shin, Jin-Hong, Kim, Dae-Seong, Jeon, Ju-Hong, So, Insuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Molecular and Cellular Biology 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969040/
https://www.ncbi.nlm.nih.gov/pubmed/24625573
http://dx.doi.org/10.14348/molcells.2014.2267

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969040/
https://www.ncbi.nlm.nih.gov/pubmed/24625573
http://dx.doi.org/10.14348/molcells.2014.2267

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