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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/
https://www.ncbi.nlm.nih.gov/pubmed/29298851
http://dx.doi.org/10.1212/WNL.0000000000004894

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