RYR1 myopathies in childhood: phenotype-genotype correlation and incidence

CONCLUSIONS: RYR1-RM in our series exhibited phenotypic and involvement variability, with an incidence in our area of around 1 in 10,000 live births. Most cases were male, with dominant missense variants. We contribute five previously undescribed genetic variants.PMID:38502166 | DOI:10.33588/rn.7807.2023348

Source: Revista de Neurologia - March 19, 2024 Category: Neurology Authors: N Del Arco-Guzm án S Lobato-L ópez R Calvo-Medina R Vera-Medialdea C Ruiz-P érez J M Ramos-Fern ández Source Type: research