Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

OBJECTIVE: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor (RYR1) gene mutations. METHODS: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with RYR1-related disorders were referred for a t...

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Bibliografiset tiedot
Julkaisussa:Neurology
Päätekijät: Matthews, Emma, Neuwirth, Christoph, Jaffer, Fatima, Scalco, Renata S., Fialho, Doreen, Parton, Matt, Raja Rayan, Dipa, Suetterlin, Karen, Sud, Richa, Spiegel, Roland, Mein, Rachel, Houlden, Henry, Schaefer, Andrew, Healy, Estelle, Palace, Jacqueline, Quinlivan, Ros, Treves, Susan, Holton, Janice L., Jungbluth, Heinz, Hanna, Michael G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Lippincott Williams & Wilkins 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5791790/
https://ncbi.nlm.nih.gov/pubmed/29298851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004894
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