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
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Orphanet Journal Of Rare Diseases
Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ