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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018.
Front Neurol. 2018.
PMID: 29556213
Free PMC article.
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG.
Todd JJ, et al. Among authors: shelton ms.
J Neurol. 2018 Nov;265(11):2506-2524. doi: 10.1007/s00415-018-9033-2. Epub 2018 Aug 28.
J Neurol. 2018.
PMID: 30155738
Free PMC article.
Clinical Trial.
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