Caricamento...
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...
Salvato in:
| Autori principali: | , , , , |
|---|---|
| Natura: | Articolo |
| Lingua: | English |
| Pubblicazione: |
Blackwell Science Inc
2003
|
| Soggetti: | |
| Accesso online: | 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 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|