Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy

Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy

IntroductionNext generation sequencing results in an explosive identification of rare variants of RYR1, making the correlation between phenotype and genotype complicated. We analyzed the data of 33 patients with RYR1-related myopathy, attempting to elucidate correlations between phenotype, genotype,...

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Bibliographic Details
Main Authors: Xingzhi Chang, Risheng Wei, Cuijie Wei, Jieyu Liu, Lun Qin, Hui Yan, Yinan Ma, Zhaoxia Wang, Hui Xiong
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Neurology
Subjects:
phenotype
genotype
protein structure
RYR1-related myopathy
cohort study
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.870285/full

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