The muscle specific chloride channel ClC-1 and myotonia congenita in Northern Finland
Abstract Functional defects in the muscle specific chloride channel ClC-1 result in reduced chloride conductance and electrical hyperexcitability, which in turn impairs muscle relaxation and leads to myotonia. The gene CLCN 1 codes for ClC-1 in humans, and mutations in CLCN 1 cause the disease k...
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| Format: | Doctoral Thesis |
| Language: | English |
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University of Oulu
2008
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| Online Access: | http://urn.fi/urn:isbn:9789514286926 http://nbn-resolving.de/urn:isbn:9789514286926 |