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Article

Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.

The Biochemical journal - 1 Apr 2007

Macías María J, Teijido Oscar, Zifarelli Giovanni, Martin Pau, Ramirez-Espain Ximena, Zorzano Antonio, Palacín Manuel, Pusch Michael, Estévez Raúl

Abstract excerpt

Myotonia is a state of hyperexcitability of skeletal-muscle fibres. Mutations in the ClC-1 Cl- channel cause recessive and dominant forms of this disease. Mutations have been described throughout the protein-coding region, including three sequence variations (A885P, R894X and P932L) in a distal C-terminal stretch of residues [CTD (C-terminal domain) region] that are not conserved between CLC proteins. We show...

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Identifiers

PMID: 17107341
DOI: 10.1042/BJ20061230
PMCID: PMC1828897

Genes

CLC

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Source receipt: pubmed, retrieved 7 Sept 2026.

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