Article
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology - 30 Jan 2018
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
Abstract excerpt
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 tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, including...
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