Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Journal Of Neuromuscular Diseases
Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG
Publication Date: 2021
Variant appearance in text: RYR1: 14763C>G; Phe4921Leu
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Galleni Leão, Leonardo L; Santos Souza, Lucas L; Nogueira, Letícia L; Pavanello, Rita de Cássia Mingroni RCM; Gurgel-Giannetti, Juliana J; Reed, Umbertina C UC; Oliveira, Acary S B ASB; Cuperman, Thais T; Cotta, Ana A; FPaim, Julia J; Zatz, Mayana M; Vainzof, Mariz M
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Journal Of Neurology
Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Frontiers In Neurology
Todd, Joshua J JJ; Razaqyar, Muslima S MS; Witherspoon, Jessica W JW; Lawal, Tokunbor A TA; Mankodi, Ami A; Chrismer, Irene C IC; Allen, Carolyn C; Meyer, Mary D MD; Kuo, Anna A; Shelton, Monique S MS; Amburgey, Kim K; Niyazov, Dmitriy D; Fequiere, Pierre P; Bönnemann, Carsten G CG; Dowling, James J JJ; Meilleur, Katherine G KG