Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.

ABSTRACT:

Background

Myopathies related to Ryanodine receptor 1 (RYR1) mutation are the most common nondystrophy muscle disorder in humans. Early detection and diagnosis of RYR1 mutation-associated myopathies may lead to more timely treatment of patients, which contributes to the management and preparation for malignant hyperthermia. However, diagnosis of RYR1 mutation-associated myopathies is delayed and challenging. The absence of diagnostic morphological features in muscle biopsy does not rule out the possibility of pathogenic variations in RYR1. Accordingly, it is helpful to seek biomarkers to diagnose RYR1 mutation-associated myopathies.

Methods

Skeletal muscle tissue microarray datasets of RYR1 mutation-associated myopathies or healthy persons were built in accordance with the g

SUBMITTER: Wang X 

PROVIDER: S-EPMC9187445 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature