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Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.
Over 20 different missense mutations in the alpha subunit of the adult skeletal muscle Na channel have been identified in families with either myotonia (muscle stiffness) or periodic paralysis, or both. The V445M mutation was recently found in a family with myotonia but no weakness. This mutation in...
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| Main Authors: | , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
1999
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1300087/ https://ncbi.nlm.nih.gov/pubmed/9929487 |
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