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: 7060_7062delGTG; Val2354del
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
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
Molecular Genetics & Genomic Medicine
Blackburn, Patrick R PR; Selcen, Duygu D; Gass, Jennifer M JM; Jackson, Jessica L JL; Macklin, Sarah S; Cousin, Margot A MA; Boczek, Nicole J NJ; Klee, Eric W EW; Dimberg, Elliot L EL; Kennelly, Kathleen D KD; Atwal, Paldeep S PS
Publication Date: 2017-05
Variant appearance in text: RYR1: 7060_7062del; Val2354del