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Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix
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-...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Portland Press Ltd.
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1828897/ https://ncbi.nlm.nih.gov/pubmed/17107341 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20061230 |
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