Non-dystrophic myotonia: prospective study of objective and patient reported outcomes

Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms and signs of myotonia in a large cohort of patients. We perform...

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Bibliografiska uppgifter
Huvudupphovsmän: Trivedi, Jaya R., Bundy, Brian, Statland, Jeffrey, Salajegheh, Mohammad, Rayan, Dipa Raja, Venance, Shannon L., Wang, Yunxia, Fialho, Doreen, Matthews, Emma, Cleland, James, Gorham, Nina, Herbelin, Laura, Cannon, Stephen, Amato, Anthony, Griggs, Robert C., Hanna, Michael G., Barohn, Richard J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2013
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Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3692030/
https://ncbi.nlm.nih.gov/pubmed/23771340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt133
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