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Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans
1. Paramyotonia congenita is a temperature-sensitive skeletal muscle disorder caused by missense mutations that occur in the adult skeletal muscle voltage-gated sodium channel. We report here the identification of a new genetic mutation in a family with the paramyotonia congenita phenotype. 2. Singl...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Blackwell Science Inc
1999
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2269438/ https://ncbi.nlm.nih.gov/pubmed/10381583 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-7793.1999.0337p.x |
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