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Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

Abstract:

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 neurophysiologic assessment, muscle biopsy, and muscle MRI. Genetic analysis with next-genera...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.1212/WNL.0000000000004894

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Role:
Author
ORCID:
0000-0002-5400-562X
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Publisher:
American Academy of Neurology Publisher's website
Journal:
Neurology Journal website
Volume:
90
Issue:
5
Publication date:
2018-01-03
Acceptance date:
2017-10-24
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
Pubs id:
pubs:817871
URN:
uri:20461beb-dabf-48c3-b662-0c38638e5044
UUID:
uuid:20461beb-dabf-48c3-b662-0c38638e5044
Local pid:
pubs:817871
Language:
English
Keywords:

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