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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2013
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Original Articles
On-line přístup: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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