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

ABSTRACT:

Introduction

Next 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, and protein structure of RyR1.

Methods

Clinical, histopathologic, and genetic data were evaluated, and variants were mapped to the cryo-EM RyR1 structure. The three-dimensional structure of the variant on RyR1 was analyzed.

Results

The clinical spectrum was highly variable regardless of the mode of inheritance. Recessive variations were associated with more severe feeding problems and respiratory insufficiency in infancy (p < 0.05). Forty pathogenic a

SUBMITTER: Chang X 

PROVIDER: S-EPMC9178086 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature