Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.
Anesthesiology
Kim, Jerry H JH; Jarvik, Gail P GP; Browning, Brian L BL; Rajagopalan, Ramakrishnan R; Gordon, Adam S AS; Rieder, Mark J MJ; Robertson, Peggy D PD; Nickerson, Deborah A DA; Fisher, Nickla A NA; Hopkins, Philip M PM
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