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The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia
Abstract
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability. For both diseases, alterations in muscle chloride or sodium currents or both have been observed. A complementary DNA for a human skeletal muscle chloride channel ( CLC -1) was cloned, physically localized on chromosome 7, and linked to the T cell receptor β ( TCRB ) locus. Tight linkage of these two loci to GM and MC was found in German families. An unusual restriction site in the CLC -1 locus in two GM families identified a mutation associated with that disease, a phenylalanine-to-cysteine substitution in putative transmembrane domain D8. This suggests that different mutations in CLC -1 may cause dominant or recessive myotonia.
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Citations
Cited by
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Schiaffino, S., & Reggiani, C. (2011) · Physiological Reviews · doi:10.1152/physrev.00031.2010 · Cited by 3,022
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Jentsch, T. J., Stein, V., Weinreich, F., & Zdebik, A. A. (2002) · Physiological Reviews · doi:10.1152/physrev.00029.2001 · Cited by 1,256
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Structure of a CLC chloride ion channel by cryo-electron microscopy
Park, E., Campbell, E. B., & MacKinnon, R. (2017) · Nature · doi:10.1038/nature20812 · Cited by 164
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Metadata
- Authors
- Koch, M. C., Steinmeyer, K., Lorenz, C., Ricker, K., Wolf, F., Otto, M., Zoll, B., Lehmann-Horn, F., Grzeschik, K.-H., & Jentsch, T. J.
- Venue
- Science
- Published
- 1992-08-07
- Volume
- 257
- Issue
- 5071
- Pages
- 797-800
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2080083594
- Cited by
- 714
- References
- 0
- FWCI
- 13.23
- Type
- journal article
- Language
- en
- Open access
- closed
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- Koch, M. C., Steinmeyer, K., Lorenz, C., Ricker, K., Wolf, F., Otto, M., Zoll, B., Lehmann-Horn, F., Grzeschik, K.-H., & Jentsch, T. J. (1992). The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia. Science. https://doi.org/10.1126/science.1379744
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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