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Myasthenic syndrome caused by mutation of the SCN4A sodium channel

In a myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth, nerve stimulation at physiologic rates rapidly decremented the compound muscle action potential. Intercostal muscle studies revealed no abnormality of the re...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Tsujino, Akira, Maertens, Chantal, Ohno, Kinji, Shen, Xin-Ming, Fukuda, Taku, Harper, C. Michael, Cannon, Stephen C., Engel, Andrew G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: National Academy of Sciences 2003
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC165883/
https://ncbi.nlm.nih.gov/pubmed/12766226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1230273100
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