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Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V
Missense mutations of the human skeletal muscle voltage-gated Na(+) channel (hSkM1) cause a variety of neuromuscular disorders. The mutation R1448H results in paramyotonia congenita and causes cold-induced myotonia with subsequent paralysis. The mutation M1360V causes an overlapping syndrome with bo...
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Main Authors: | , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Blackwell Science Inc
2003
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2342724/ https://ncbi.nlm.nih.gov/pubmed/12562902 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2002.033928 |
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