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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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2013
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Original Articles
Acceso en línea: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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