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Article

Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.

Molecules and cells - 1 Mar 2014

Ha Kotdaji, Kim Sung-Young, Hong Chansik, Myeong Jongyun, Shin Jin-Hong, Kim Dae-Seong, Jeon Ju-Hong, So Insuk

Abstract excerpt

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 characteristics of six mutants found among Korean MC patients, using patch clamp methods in HEK293 cells. Here, we found...

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Identifiers

PMID: 24625573
DOI: 10.14348/molcells.2014.2267
PMCID: PMC3969040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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