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Article

Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal of neurology - 1 Nov 2018

Todd Joshua J, Sagar Vatsala, Lawal Tokunbor A, Allen Carolyn, Razaqyar Muslima S, Shelton Monique S, Chrismer Irene C, Zhang Xuemin, Cosgrove Mary M, Kuo Anna, Vasavada Ruhi, Jain Minal S, Waite Melissa, Rajapakse Dinusha, Witherspoon Jessica W, Wistow Graeme, Meilleur Katherine G

Abstract excerpt

Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders. Presentation during infancy is typical and ranges from delayed motor milestones and proximal muscle weakness to severe respiratory impairment and ophthalmoplegia. We aimed to elucidate correlations between genotype, protein structure and clinical phenotype in this rare disease population. Genetic and...

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Identifiers

PMID: 30155738
DOI: 10.1007/s00415-018-9033-2
PMCID: PMC6182665

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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