Ontology highlight
ABSTRACT:
SUBMITTER: Todd JJ
PROVIDER: S-EPMC6182665 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Journal of neurology 20180828 11
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 clinical data from 47 affected individuals were analyzed and variants mapped to the c ...[more]