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...

Full description

Saved in:
Bibliographic Details
Published in:Neurology
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Lippincott Williams & Wilkins 2018
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items