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Article

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.

Molecular biology reports - 1 May 2014

Ulzi Gianna, Sansone Valeria A, Magri Francesca, Corti Stefania, Bresolin Nereo, Comi Giacomo P, Lucchiari Sabrina

Abstract excerpt

Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). The encoded protein, ClC-1, is the primary channel that mediates chloride (Cl-) conductance in skeletal muscle. Mutations in CLCN1 lower the channel's threshold voltage, leading to spontaneous action potentials that are not coupled to neuromuscular transmission and resulting...

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Source

Identifiers

PMID: 24452722
DOI: 10.1007/s11033-014-3142-5

Genes

CLCN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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