Associated Papers
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A et al.
Neurology, 2023
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B et al.
Journal of Child Neurology, 2022
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Hayakawa I et al.
Italian Journal of Pediatrics, 2019
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y et al.
Journal of Human Genetics, 2016
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
Kondo E et al.
American Journal of Medical Genetics. Part A, 2012
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