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.
J Neurol. 2018. 265(11), 2506-2524.
Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders.
From 47 affected individuals, authors aimed to elucidate correlations between genotype, protein structure and clinical phenotype in this population.
Motor deficits were most apparent in the MFM-32 D1 domains, [median (IQR) 85.4 (18.8)% of maximum score] and recessive cases exhibited significantly greater overall motor function impairment compared to dominant/de novo cases [79.7 (18.8)% vs. 87.5 (17.7)% of maximum score, p = 0.03].
Keywords: Genotype-phenotype, Myopathy, Neuromuscular disease, RyR1, Structure-function
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