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Article

Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.

Biochemical and biophysical research communications - 29 Dec 2006

Lin Min-Jon, You Tsai-Hong, Pan Huichin, Hsiao Kuang-Ming

Abstract excerpt

Mutations in the CLCN1 gene frequently associate with myotonia congenita (MC). We have recently reported several CLCN1 mutants in Taiwanese patients. To further elucidate the correlation between the genotypes and phenotypes, in this study, we used Xenopus oocyte as a system to investigate the functional effects of these mutants. The fs793X and G482R mutants, which were suggested to have a dual inheritance...

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Source

Identifiers

PMID: 17097617
DOI: 10.1016/j.bbrc.2006.10.158

Genes

CLCN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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