Background: Pathogenic variants in ryanodine receptor type 1 (RYR1) gene are an important cause of congenital myopathy. The clinical, histopathologic and genetic spectrum is wide. Objective: Review a group of the patients diagnosed with ryanodinopathy in a tertiary centre from North Portugal, as ...
A 14-year-old male pediatric patient was admitted to the hospital mainly because of neck and back deformity, with limited activity for 7 yr, dysphagia and short of breath for more than 10 months.He was diagnosed with cervical lordosis deformity, RyR1 gene-related myopathy, high possibility of...
Staining for oxidative enzymes (NADH RYR1-related central core myopathy in a Chinese adolescent boy C A S E R E P O R T Key words Malignant hyperthermia; Mutation, missense; Myopathy, central core; Myopathies, structural, congenital; Ryanodine receptor calcium release channel Hong Kong Med J...
We studied the affected members of 2 pedigrees diagnosed with atypical Moebius syndrome or congenital fibrosis of extraocular muscles and found them to harbor homozygous or compound heterozygous missense mutations in RYR1, leading to their rediagnosis with RYR1-related myopathy with total...
Ryanodine receptor 1-related myopathies (RyR1-RM) comprise the most common non-dystrophic congenital myopathy, with a prevalence of approximately 1/90,000 in the United States [2, 83]. Causative mutations in the gene (RYR1), which encode the major sarcoplasmic reticulum calcium release channel ...
A congenital myopathy featuring ptosis and external ophthalmoplegia, concomitant with the novel histopathological phenotype showing fibres with large, poorly delimited areas of myofibrillar disorganization and internal nuclei, is highly suggestive of an RYR1- related congenital myopathy....
number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1 ‐related congenital myopathies such as central core disease, minicore myopathy with external ophthalmoplegia, core‐rod myopathy, and congenital neuromuscular ...
With the era of next‐generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1 ‐related congenital myopathies such as central core disease, minicore myopathy with external ophthalm...
In the present work we focused on the pathophysiol- ogy of the exclusive reduction in RyR1 protein expres- sion in muscle, as this situation is frequently observed in patients affected with recessive congenital myopathy. To dissect the mechanisms related to a reduction in RyR1 amount we have ...
RYR1-related myopathies: A wide spectrum of phenotypes throughout life 2015, European Journal of Neurology Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies 2012, Human Mutation Consensus statement on standard of care for congenital myo...